# 指南与文献库

本站的每一条事实都标明出处。这里是全站 548 条出处的总目录，按国家标准与规范、指南与专家共识、研究论文、图书、网页与公开记录分组，年份从新到旧；每条注明被哪些页面引用，可点到原文。

来源：https://www.baoxiulan.com/references  
更新：2026-09-17

## 国家标准与规范（32）

- **[国家卫生健康委员会. 86 个罕见病病种诊疗指南（2025 年版）[S]. 国家卫生健康委员会, 2025. (访问于 2026-09-10).](https://www.nhc.gov.cn/yzygj/c100068/202507/5b3f41180a42465eb9eec34597bacaf2.shtml)**（引用于：Rett 综合征 https://www.baoxiulan.com/rare-diseases/rett-syndrome；West 综合征 https://www.baoxiulan.com/rare-diseases/west-syndrome；脆性 X 综合征 https://www.baoxiulan.com/rare-diseases/fragile-x-syndrome；神经纤维瘤病 https://www.baoxiulan.com/rare-diseases/neurofibromatosis-type-1；CDKL5 缺乏症 https://www.baoxiulan.com/rare-diseases/cdkl5-deficiency；异染性脑白质营养不良 https://www.baoxiulan.com/rare-diseases/metachromatic-leukodystrophy；软骨发育不全 https://www.baoxiulan.com/rare-diseases/achondroplasia；原发性生长激素缺乏症 https://www.baoxiulan.com/rare-diseases/growth-hormone-deficiency；儿童罕见病 https://www.baoxiulan.com/rare-diseases；罕见病政策与保障 https://www.baoxiulan.com/rare-diseases/policy；发育倒退 https://www.baoxiulan.com/rare-diseases/sign/regression；语言发育迟缓 https://www.baoxiulan.com/rare-diseases/sign/no-speech；癫痫发作 https://www.baoxiulan.com/rare-diseases/sign/seizure；头围增长异常 https://www.baoxiulan.com/rare-diseases/sign/head-size；手部刻板动作 https://www.baoxiulan.com/rare-diseases/sign/stereotypy；神经发育障碍与癫痫性脑病 https://www.baoxiulan.com/rare-diseases/category/neurodevelopmental；术语表 https://www.baoxiulan.com/glossary）  
  对应第二批罕见病目录的 86 种病，Rett 综合征为第 72 章。
- **[国家医疗保障局, 人力资源社会保障部. 关于印发《国家基本医疗保险、生育保险和工伤保险药品目录》以及《商业健康保险创新药品目录》（2025 年）的通知（医保发〔2025〕33 号）[S]. 国家医疗保障局, 2025. (访问于 2026-09-11).](https://www.nhsa.gov.cn/art/2025/12/7/art_104_18970.html)**（引用于：四氢生物蝶呤缺乏症 https://www.baoxiulan.com/rare-diseases/tetrahydrobiopterin-deficiency）  
  新版目录自 2026 年 1 月 1 日起执行；《商业健康保险创新药品目录》第 2 项为盐酸沙丙蝶呤片，有效期 2026 年 1 月 1 日至 2027 年 12 月 31 日。
- **[国家医疗保障局、人力资源社会保障部. 国家基本医疗保险、生育保险和工伤保险药品目录（2025 年）[S]. 国家医疗保障局, 2025. (访问于 2026-09-12).](https://www.nhsa.gov.cn/art/2025/12/7/art_104_18970.html)**（引用于：尼曼匹克病 https://www.baoxiulan.com/rare-diseases/niemann-pick-disease；肝豆状核变性 https://www.baoxiulan.com/rare-diseases/wilson-disease；多巴反应性肌张力障碍 https://www.baoxiulan.com/rare-diseases/dopa-responsive-dystonia；Lennox-Gastaut 综合征 https://www.baoxiulan.com/rare-diseases/lennox-gastaut-syndrome）  
  2026 年 1 月 1 日起执行。
- **[National Institute for Health and Care Excellence. Epilepsies in children, young people and adults（NICE guideline NG217）[S]. NICE, 2025. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK581165/)**（引用于：结节性硬化症 https://www.baoxiulan.com/rare-diseases/tuberous-sclerosis；West 综合征 https://www.baoxiulan.com/rare-diseases/west-syndrome）
- **[National Institute for Health and Care Excellence. Ganaxolone for treating seizures caused by CDKL5 deficiency disorder in people 2 years and over（TA1033）[S]. NICE, 2025. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK613928/)**（引用于：CDKL5 缺乏症 https://www.baoxiulan.com/rare-diseases/cdkl5-deficiency）
- **[宜昌人福药业有限责任公司. 2024 年国家医保药品目录调整申报材料（公示版）：氯巴占片[S]. 国家医疗保障局, 2024. (访问于 2026-09-12).](https://www.nhsa.gov.cn/attach/Ypsn2024/YPSW202400279/YPSW202400279.pdf)**（引用于：Lennox-Gastaut 综合征 https://www.baoxiulan.com/rare-diseases/lennox-gastaut-syndrome）  
  载明说明书适应证、中国大陆首次上市时间与批准文号。
- **[国家卫生健康委员会, 科学技术部, 工业和信息化部, 国家药品监督管理局, 国家中医药管理局, 中央军委后勤保障部卫生局. 关于公布第二批罕见病目录的通知（国卫医政发〔2023〕26 号）[S]. 中华人民共和国工业和信息化部, 2023. (访问于 2026-09-10).](https://www.miit.gov.cn/jgsj/xfpgys/wjfb/art/2023/art_f25169aef87b47afa03862549f2125ed.html)**（引用于：Rett 综合征 https://www.baoxiulan.com/rare-diseases/rett-syndrome；West 综合征 https://www.baoxiulan.com/rare-diseases/west-syndrome；脆性 X 综合征 https://www.baoxiulan.com/rare-diseases/fragile-x-syndrome；神经纤维瘤病 https://www.baoxiulan.com/rare-diseases/neurofibromatosis-type-1；CDKL5 缺乏症 https://www.baoxiulan.com/rare-diseases/cdkl5-deficiency；异染性脑白质营养不良 https://www.baoxiulan.com/rare-diseases/metachromatic-leukodystrophy；软骨发育不全 https://www.baoxiulan.com/rare-diseases/achondroplasia；原发性生长激素缺乏症 https://www.baoxiulan.com/rare-diseases/growth-hormone-deficiency；DYRK1A 综合征 https://www.baoxiulan.com/rare-diseases/dyrk1a-syndrome；Kabuki 综合征 https://www.baoxiulan.com/rare-diseases/kabuki-syndrome；Cornelia de Lange 综合征 https://www.baoxiulan.com/rare-diseases/cornelia-de-lange-syndrome；Sotos 综合征 https://www.baoxiulan.com/rare-diseases/sotos-syndrome；21 三体综合征 https://www.baoxiulan.com/rare-diseases/down-syndrome；22q11.2 缺失综合征 https://www.baoxiulan.com/rare-diseases/22q11-deletion；Phelan-McDermid 综合征 https://www.baoxiulan.com/rare-diseases/phelan-mcdermid-syndrome；Smith-Magenis 综合征 https://www.baoxiulan.com/rare-diseases/smith-magenis-syndrome；猫叫综合征 https://www.baoxiulan.com/rare-diseases/cri-du-chat-syndrome；CHARGE 综合征 https://www.baoxiulan.com/rare-diseases/charge-syndrome；SYNGAP1 相关智力障碍 https://www.baoxiulan.com/rare-diseases/syngap1-intellectual-disability；ADNP 综合征 https://www.baoxiulan.com/rare-diseases/adnp-syndrome；CHD8 相关神经发育障碍 https://www.baoxiulan.com/rare-diseases/chd8-neurodevelopmental-disorder；PTEN 错构瘤肿瘤综合征 https://www.baoxiulan.com/rare-diseases/pten-hamartoma-tumor-syndrome；MECP2 重复综合征 https://www.baoxiulan.com/rare-diseases/mecp2-duplication-syndrome；15q11.2-q13.1 重复综合征 https://www.baoxiulan.com/rare-diseases/dup15q-syndrome；Potocki-Lupski 综合征 https://www.baoxiulan.com/rare-diseases/potocki-lupski-syndrome；Pitt-Hopkins 综合征 https://www.baoxiulan.com/rare-diseases/pitt-hopkins-syndrome；Mowat-Wilson 综合征 https://www.baoxiulan.com/rare-diseases/mowat-wilson-syndrome；KBG 综合征 https://www.baoxiulan.com/rare-diseases/kbg-syndrome；Coffin-Siris 综合征 https://www.baoxiulan.com/rare-diseases/coffin-siris-syndrome；Koolen-de Vries 综合征 https://www.baoxiulan.com/rare-diseases/koolen-de-vries-syndrome；7q11.23 重复综合征 https://www.baoxiulan.com/rare-diseases/7q11-duplication；Kleefstra 综合征 https://www.baoxiulan.com/rare-diseases/kleefstra-syndrome；Rubinstein-Taybi 综合征 https://www.baoxiulan.com/rare-diseases/rubinstein-taybi-syndrome；Smith-Lemli-Opitz 综合征 https://www.baoxiulan.com/rare-diseases/smith-lemli-opitz-syndrome；脑肌酸缺乏综合征 https://www.baoxiulan.com/rare-diseases/creatine-deficiency；GLUT1 缺乏综合征 https://www.baoxiulan.com/rare-diseases/glut1-deficiency；神经元蜡样脂褐质沉积症 https://www.baoxiulan.com/rare-diseases/neuronal-ceroid-lipofuscinosis；四氢生物蝶呤缺乏症 https://www.baoxiulan.com/rare-diseases/tetrahydrobiopterin-deficiency；X-连锁肾上腺脑白质营养不良 https://www.baoxiulan.com/rare-diseases/x-linked-adrenoleukodystrophy；线粒体脑肌病 https://www.baoxiulan.com/rare-diseases/mitochondrial-encephalomyopathy；尼曼匹克病 https://www.baoxiulan.com/rare-diseases/niemann-pick-disease；神经节苷脂贮积症 https://www.baoxiulan.com/rare-diseases/gangliosidosis；戊二酸血症Ⅰ型 https://www.baoxiulan.com/rare-diseases/glutaric-acidemia-type-1；枫糖尿症 https://www.baoxiulan.com/rare-diseases/maple-syrup-urine-disease；生物素酶缺乏症 https://www.baoxiulan.com/rare-diseases/biotinidase-deficiency；同型半胱氨酸血症 https://www.baoxiulan.com/rare-diseases/homocystinuria；肝豆状核变性 https://www.baoxiulan.com/rare-diseases/wilson-disease；多巴反应性肌张力障碍 https://www.baoxiulan.com/rare-diseases/dopa-responsive-dystonia；Lennox-Gastaut 综合征 https://www.baoxiulan.com/rare-diseases/lennox-gastaut-syndrome；非综合征型耳聋 https://www.baoxiulan.com/rare-diseases/nonsyndromic-hearing-loss；1p36 缺失综合征 https://www.baoxiulan.com/rare-diseases/chromosome-1p36-deletion；Wolf-Hirschhorn 综合征 https://www.baoxiulan.com/rare-diseases/wolf-hirschhorn-syndrome；Joubert 综合征 https://www.baoxiulan.com/rare-diseases/joubert-syndrome；无脑回畸形 https://www.baoxiulan.com/rare-diseases/lissencephaly；FOXG1 综合征 https://www.baoxiulan.com/rare-diseases/foxg1-syndrome；STXBP1 相关发育性癫痫性脑病 https://www.baoxiulan.com/rare-diseases/stxbp1-encephalopathy；CTNNB1 相关神经发育障碍 https://www.baoxiulan.com/rare-diseases/ctnnb1-syndrome；SATB2 相关障碍 https://www.baoxiulan.com/rare-diseases/satb2-syndrome；鸟氨酸氨甲酰基转移酶缺乏症 https://www.baoxiulan.com/rare-diseases/ornithine-transcarbamylase-deficiency；瓜氨酸血症 https://www.baoxiulan.com/rare-diseases/citrullinemia；精氨酸酶缺乏症 https://www.baoxiulan.com/rare-diseases/arginase-deficiency；丙酸血症 https://www.baoxiulan.com/rare-diseases/propionic-acidemia；异戊酸血症 https://www.baoxiulan.com/rare-diseases/isovaleric-acidemia；半乳糖血症 https://www.baoxiulan.com/rare-diseases/galactosemia；原发性肉碱缺乏症 https://www.baoxiulan.com/rare-diseases/primary-carnitine-deficiency；戈谢病 https://www.baoxiulan.com/rare-diseases/gaucher-disease；全身型重症肌无力 https://www.baoxiulan.com/rare-diseases/myasthenia-gravis；低碱性磷酸酶血症 https://www.baoxiulan.com/rare-diseases/hypophosphatasia；马凡综合征 https://www.baoxiulan.com/rare-diseases/marfan-syndrome；面肩肱型肌营养不良症 https://www.baoxiulan.com/rare-diseases/facioscapulohumeral-muscular-dystrophy；先天性肌营养不良（胶原Ⅵ相关肌病） https://www.baoxiulan.com/rare-diseases/congenital-muscular-dystrophy；慢性炎性脱髓鞘性多发性神经根神经病 https://www.baoxiulan.com/rare-diseases/cidp；Pelizaeus-Merzbacher 病 https://www.baoxiulan.com/rare-diseases/pelizaeus-merzbacher-disease；亚历山大病 https://www.baoxiulan.com/rare-diseases/alexander-disease；Canavan 病 https://www.baoxiulan.com/rare-diseases/canavan-disease；Zellweger 谱系障碍 https://www.baoxiulan.com/rare-diseases/zellweger-spectrum-disorder；Menkes 病 https://www.baoxiulan.com/rare-diseases/menkes-disease；Aicardi-Goutières 综合征 https://www.baoxiulan.com/rare-diseases/aicardi-goutieres-syndrome；L1 综合征 https://www.baoxiulan.com/rare-diseases/l1-syndrome；共济失调毛细血管扩张症 https://www.baoxiulan.com/rare-diseases/ataxia-telangiectasia；KCNQ2 相关障碍 https://www.baoxiulan.com/rare-diseases/kcnq2-related-disorders；进行性骨化性纤维发育不良 https://www.baoxiulan.com/rare-diseases/fibrodysplasia-ossificans-progressiva；Dandy-Walker 畸形 https://www.baoxiulan.com/rare-diseases/dandy-walker-malformation；Sturge-Weber 综合征 https://www.baoxiulan.com/rare-diseases/sturge-weber-syndrome；多小脑回 https://www.baoxiulan.com/rare-diseases/polymicrogyria；Bardet-Biedl 综合征 https://www.baoxiulan.com/rare-diseases/bardet-biedl-syndrome；Leber 先天性黑矇 https://www.baoxiulan.com/rare-diseases/leber-congenital-amaurosis；早产儿视网膜病变 https://www.baoxiulan.com/rare-diseases/retinopathy-of-prematurity；儿童罕见病 https://www.baoxiulan.com/rare-diseases；罕见病政策与保障 https://www.baoxiulan.com/rare-diseases/policy；术语表 https://www.baoxiulan.com/glossary）  
  收录 86 种罕见病。
- **[United Nations Children’s Fund. The Early Childhood Development Index 2030: A new measure of early childhood development[S]. UNICEF, 2023. (访问于 2026-09-10).](https://data.unicef.org/resources/early-childhood-development-index-2030-ecdi2030/)**（引用于：宝秀兰儿童神经发育综合评估系统 https://www.baoxiulan.com/bxl-cna）  
  24–59 月龄人群指标，20 条照护者报告题，服务于可持续发展目标指标 4.2.1
- **[国家卫生健康委办公厅. 0～6 岁儿童孤独症筛查干预服务规范（试行）（国卫办妇幼发〔2022〕12 号）[S]. 中国政府网, 2022. (访问于 2026-09-07).](https://www.gov.cn/zhengce/zhengceku/2022-09/23/content_5711379.htm)**（引用于：自闭症谱系障碍 ASD https://www.baoxiulan.com/services/autism；心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment；行为矫正训练 https://www.baoxiulan.com/programs/behavior；语言发育迟缓 https://www.baoxiulan.com/rare-diseases/sign/no-speech；手部刻板动作 https://www.baoxiulan.com/rare-diseases/sign/stereotypy；评估量表一览 https://www.baoxiulan.com/assessments；术语表 https://www.baoxiulan.com/glossary）
- **[国家卫生健康委办公厅. 3 岁以下婴幼儿健康养育照护指南（试行）（国卫办妇幼函〔2022〕409 号）[S]. 中国政府网, 2022. (访问于 2026-09-07).](https://www.gov.cn/zhengce/zhengceku/2022-11/29/content_5729421.htm)**（引用于：注意力缺陷 https://www.baoxiulan.com/services/attention；喂养困难 / 营养咨询 https://www.baoxiulan.com/services/feeding；家庭育儿指导课程 https://www.baoxiulan.com/services/parenting；术语表 https://www.baoxiulan.com/glossary）
- **[国家卫生健康委. 7 岁以下儿童生长标准 WS/T 423—2022[S]. 中华人民共和国卫生行业标准, 2022. (访问于 2026-09-07).](https://www.nhc.gov.cn/cms-search/downFiles/e38068f0a62d4a1eb1bd451414444ec1.pdf)**（引用于：喂养困难 / 营养咨询 https://www.baoxiulan.com/services/feeding；喂养困难 https://www.baoxiulan.com/rare-diseases/sign/feeding；头围增长异常 https://www.baoxiulan.com/rare-diseases/sign/head-size；身材矮小 https://www.baoxiulan.com/rare-diseases/sign/short-stature；骨骼与结缔组织 https://www.baoxiulan.com/rare-diseases/category/skeletal；内分泌与生长 https://www.baoxiulan.com/rare-diseases/category/endocrine；0～1 岁神经运动 20 项检查 https://www.baoxiulan.com/bxl-ina；评估量表一览 https://www.baoxiulan.com/assessments；术语表 https://www.baoxiulan.com/glossary）
- **[北京市残疾人联合会, 北京市财政局, 北京市卫生健康委员会, 北京市医疗保障局. 北京市残疾儿童康复服务办法[S]. 北京市人民政府, 2022. (访问于 2026-09-10).](https://www.beijing.gov.cn/zhengce/zhengcefagui/202203/t20220308_2624302.html)**（引用于：罕见病政策与保障 https://www.baoxiulan.com/rare-diseases/policy）  
  按残疾类别与残疾人证或诊断评估结论核定，未按病因分列。
- **[中国营养学会. 中国婴幼儿喂养指南（2022）[S]. 中国营养学会, 2022. (访问于 2026-09-07).](http://dg.cnsoc.org/article/04/gc5cUak3RhSGheqSaRljnA.html)**（引用于：喂养困难 / 营养咨询 https://www.baoxiulan.com/services/feeding；小儿推拿 https://www.baoxiulan.com/programs/tuina；喂养困难 https://www.baoxiulan.com/rare-diseases/sign/feeding）
- **[国家医疗保障局, 人力资源社会保障部. 关于印发《国家基本医疗保险、工伤保险和生育保险药品目录（2021 年）》的通知（医保发〔2021〕50 号）[S]. 国家医疗保障局, 2021. (访问于 2026-09-10).](https://www.nhsa.gov.cn/art/2021/12/3/art_37_7429.html)**（引用于：脊髓性肌萎缩症 https://www.baoxiulan.com/rare-diseases/spinal-muscular-atrophy；罕见病政策与保障 https://www.baoxiulan.com/rare-diseases/policy）  
  2021 年 11 月 24 日印发，自 2022 年 1 月 1 日起执行。
- **[国家卫生健康委. 健康儿童行动提升计划（2021—2025 年）（国卫妇幼发〔2021〕33 号）[S]. 中国政府网, 2021. (访问于 2026-09-07).](https://www.gov.cn/zhengce/2021-11/05/content_5649020.htm)**（引用于：家庭育儿指导课程 https://www.baoxiulan.com/services/parenting）
- **[国家市场监督管理总局, 国家标准化管理委员会. 中医技术操作规范 儿科 第 4 部分：小儿推拿疗法 GB/Z 40893.4—2021[S]. 国家标准化指导性技术文件, 2021. (访问于 2026-09-07).](https://www.ndls.org.cn/standard/detail/3746db19c2811c5706e4a74dfdddbd59)**（引用于：高危儿 / 早产儿早期干预 https://www.baoxiulan.com/services/high-risk-infant；脑瘫患儿康复干预 https://www.baoxiulan.com/services/cerebral-palsy；全面发育落后 https://www.baoxiulan.com/services/developmental-delay；喂养困难 / 营养咨询 https://www.baoxiulan.com/services/feeding；小儿推拿 https://www.baoxiulan.com/programs/tuina；术语表 https://www.baoxiulan.com/glossary）
- **[U.S. Food and Drug Administration. HETLIOZ（tasimelteon）· Drugs@FDA 药品档案（申请号 205677）[S]. 美国食品药品监督管理局, 2020. (访问于 2026-09-10).](https://www.accessdata.fda.gov/scripts/cder/daf/index.cfm?event=overview.process&ApplNo=205677)**（引用于：Smith-Magenis 综合征 https://www.baoxiulan.com/rare-diseases/smith-magenis-syndrome）  
  2020 年 12 月 1 日批准补充适应证：Smith-Magenis 综合征相关的夜间睡眠紊乱。
- **[国务院办公厅. 关于促进 3 岁以下婴幼儿照护服务发展的指导意见（国办发〔2019〕15 号）[S]. 中国政府网, 2019. (访问于 2026-09-07).](https://www.gov.cn/zhengce/content/2019-05/09/content_5389983.htm)**（引用于：家庭育儿指导课程 https://www.baoxiulan.com/services/parenting）
- **[国家卫生健康委员会办公厅. 关于建立全国罕见病诊疗协作网的通知（国卫办医函〔2019〕157 号）[S]. 中国政府网, 2019. (访问于 2026-09-10).](https://www.gov.cn/zhengce/zhengceku/2019-10/08/content_5436962.htm)**（引用于：脊髓性肌萎缩症 https://www.baoxiulan.com/rare-diseases/spinal-muscular-atrophy；杜氏肌营养不良 https://www.baoxiulan.com/rare-diseases/duchenne-muscular-dystrophy；腓骨肌萎缩症 https://www.baoxiulan.com/rare-diseases/charcot-marie-tooth；肌强直性营养不良 https://www.baoxiulan.com/rare-diseases/myotonic-dystrophy；先天性肌无力综合征 https://www.baoxiulan.com/rare-diseases/congenital-myasthenic-syndrome；遗传性痉挛性截瘫 https://www.baoxiulan.com/rare-diseases/hereditary-spastic-paraplegia；Rett 综合征 https://www.baoxiulan.com/rare-diseases/rett-syndrome；结节性硬化症 https://www.baoxiulan.com/rare-diseases/tuberous-sclerosis；West 综合征 https://www.baoxiulan.com/rare-diseases/west-syndrome；婴儿严重肌阵挛性癫痫 https://www.baoxiulan.com/rare-diseases/dravet-syndrome；脆性 X 综合征 https://www.baoxiulan.com/rare-diseases/fragile-x-syndrome；神经纤维瘤病 https://www.baoxiulan.com/rare-diseases/neurofibromatosis-type-1；CDKL5 缺乏症 https://www.baoxiulan.com/rare-diseases/cdkl5-deficiency；Angelman 综合征 https://www.baoxiulan.com/rare-diseases/angelman-syndrome；Prader-Willi 综合征 https://www.baoxiulan.com/rare-diseases/prader-willi-syndrome；威廉姆斯综合征 https://www.baoxiulan.com/rare-diseases/williams-syndrome；Noonan 综合征 https://www.baoxiulan.com/rare-diseases/noonan-syndrome；Silver-Russell 综合征 https://www.baoxiulan.com/rare-diseases/silver-russell-syndrome；苯丙酮尿症 https://www.baoxiulan.com/rare-diseases/phenylketonuria；糖原累积病Ⅱ型 https://www.baoxiulan.com/rare-diseases/pompe-disease；黏多糖贮积症 https://www.baoxiulan.com/rare-diseases/mucopolysaccharidosis；甲基丙二酸血症 https://www.baoxiulan.com/rare-diseases/methylmalonic-acidemia；异染性脑白质营养不良 https://www.baoxiulan.com/rare-diseases/metachromatic-leukodystrophy；成骨不全症 https://www.baoxiulan.com/rare-diseases/osteogenesis-imperfecta；软骨发育不全 https://www.baoxiulan.com/rare-diseases/achondroplasia；低磷性佝偻病 https://www.baoxiulan.com/rare-diseases/hypophosphatemic-rickets；21-羟化酶缺乏症 https://www.baoxiulan.com/rare-diseases/congenital-adrenal-hyperplasia；原发性生长激素缺乏症 https://www.baoxiulan.com/rare-diseases/growth-hormone-deficiency；DYRK1A 综合征 https://www.baoxiulan.com/rare-diseases/dyrk1a-syndrome；Kabuki 综合征 https://www.baoxiulan.com/rare-diseases/kabuki-syndrome；Cornelia de Lange 综合征 https://www.baoxiulan.com/rare-diseases/cornelia-de-lange-syndrome；Sotos 综合征 https://www.baoxiulan.com/rare-diseases/sotos-syndrome；21 三体综合征 https://www.baoxiulan.com/rare-diseases/down-syndrome；22q11.2 缺失综合征 https://www.baoxiulan.com/rare-diseases/22q11-deletion；Phelan-McDermid 综合征 https://www.baoxiulan.com/rare-diseases/phelan-mcdermid-syndrome；Smith-Magenis 综合征 https://www.baoxiulan.com/rare-diseases/smith-magenis-syndrome；猫叫综合征 https://www.baoxiulan.com/rare-diseases/cri-du-chat-syndrome；CHARGE 综合征 https://www.baoxiulan.com/rare-diseases/charge-syndrome；SYNGAP1 相关智力障碍 https://www.baoxiulan.com/rare-diseases/syngap1-intellectual-disability；ADNP 综合征 https://www.baoxiulan.com/rare-diseases/adnp-syndrome；CHD8 相关神经发育障碍 https://www.baoxiulan.com/rare-diseases/chd8-neurodevelopmental-disorder；PTEN 错构瘤肿瘤综合征 https://www.baoxiulan.com/rare-diseases/pten-hamartoma-tumor-syndrome；MECP2 重复综合征 https://www.baoxiulan.com/rare-diseases/mecp2-duplication-syndrome；15q11.2-q13.1 重复综合征 https://www.baoxiulan.com/rare-diseases/dup15q-syndrome；Potocki-Lupski 综合征 https://www.baoxiulan.com/rare-diseases/potocki-lupski-syndrome；Pitt-Hopkins 综合征 https://www.baoxiulan.com/rare-diseases/pitt-hopkins-syndrome；Mowat-Wilson 综合征 https://www.baoxiulan.com/rare-diseases/mowat-wilson-syndrome；KBG 综合征 https://www.baoxiulan.com/rare-diseases/kbg-syndrome；Coffin-Siris 综合征 https://www.baoxiulan.com/rare-diseases/coffin-siris-syndrome；Koolen-de Vries 综合征 https://www.baoxiulan.com/rare-diseases/koolen-de-vries-syndrome；7q11.23 重复综合征 https://www.baoxiulan.com/rare-diseases/7q11-duplication；Kleefstra 综合征 https://www.baoxiulan.com/rare-diseases/kleefstra-syndrome；Rubinstein-Taybi 综合征 https://www.baoxiulan.com/rare-diseases/rubinstein-taybi-syndrome；Smith-Lemli-Opitz 综合征 https://www.baoxiulan.com/rare-diseases/smith-lemli-opitz-syndrome；脑肌酸缺乏综合征 https://www.baoxiulan.com/rare-diseases/creatine-deficiency；GLUT1 缺乏综合征 https://www.baoxiulan.com/rare-diseases/glut1-deficiency；神经元蜡样脂褐质沉积症 https://www.baoxiulan.com/rare-diseases/neuronal-ceroid-lipofuscinosis；四氢生物蝶呤缺乏症 https://www.baoxiulan.com/rare-diseases/tetrahydrobiopterin-deficiency；X-连锁肾上腺脑白质营养不良 https://www.baoxiulan.com/rare-diseases/x-linked-adrenoleukodystrophy；线粒体脑肌病 https://www.baoxiulan.com/rare-diseases/mitochondrial-encephalomyopathy；尼曼匹克病 https://www.baoxiulan.com/rare-diseases/niemann-pick-disease；神经节苷脂贮积症 https://www.baoxiulan.com/rare-diseases/gangliosidosis；戊二酸血症Ⅰ型 https://www.baoxiulan.com/rare-diseases/glutaric-acidemia-type-1；枫糖尿症 https://www.baoxiulan.com/rare-diseases/maple-syrup-urine-disease；生物素酶缺乏症 https://www.baoxiulan.com/rare-diseases/biotinidase-deficiency；同型半胱氨酸血症 https://www.baoxiulan.com/rare-diseases/homocystinuria；肝豆状核变性 https://www.baoxiulan.com/rare-diseases/wilson-disease；多巴反应性肌张力障碍 https://www.baoxiulan.com/rare-diseases/dopa-responsive-dystonia；Lennox-Gastaut 综合征 https://www.baoxiulan.com/rare-diseases/lennox-gastaut-syndrome；非综合征型耳聋 https://www.baoxiulan.com/rare-diseases/nonsyndromic-hearing-loss；1p36 缺失综合征 https://www.baoxiulan.com/rare-diseases/chromosome-1p36-deletion；Wolf-Hirschhorn 综合征 https://www.baoxiulan.com/rare-diseases/wolf-hirschhorn-syndrome；Joubert 综合征 https://www.baoxiulan.com/rare-diseases/joubert-syndrome；无脑回畸形 https://www.baoxiulan.com/rare-diseases/lissencephaly；FOXG1 综合征 https://www.baoxiulan.com/rare-diseases/foxg1-syndrome；STXBP1 相关发育性癫痫性脑病 https://www.baoxiulan.com/rare-diseases/stxbp1-encephalopathy；CTNNB1 相关神经发育障碍 https://www.baoxiulan.com/rare-diseases/ctnnb1-syndrome；SATB2 相关障碍 https://www.baoxiulan.com/rare-diseases/satb2-syndrome；鸟氨酸氨甲酰基转移酶缺乏症 https://www.baoxiulan.com/rare-diseases/ornithine-transcarbamylase-deficiency；瓜氨酸血症 https://www.baoxiulan.com/rare-diseases/citrullinemia；精氨酸酶缺乏症 https://www.baoxiulan.com/rare-diseases/arginase-deficiency；丙酸血症 https://www.baoxiulan.com/rare-diseases/propionic-acidemia；异戊酸血症 https://www.baoxiulan.com/rare-diseases/isovaleric-acidemia；半乳糖血症 https://www.baoxiulan.com/rare-diseases/galactosemia；原发性肉碱缺乏症 https://www.baoxiulan.com/rare-diseases/primary-carnitine-deficiency；戈谢病 https://www.baoxiulan.com/rare-diseases/gaucher-disease；全身型重症肌无力 https://www.baoxiulan.com/rare-diseases/myasthenia-gravis；低碱性磷酸酶血症 https://www.baoxiulan.com/rare-diseases/hypophosphatasia；马凡综合征 https://www.baoxiulan.com/rare-diseases/marfan-syndrome；面肩肱型肌营养不良症 https://www.baoxiulan.com/rare-diseases/facioscapulohumeral-muscular-dystrophy；先天性肌营养不良（胶原Ⅵ相关肌病） https://www.baoxiulan.com/rare-diseases/congenital-muscular-dystrophy；慢性炎性脱髓鞘性多发性神经根神经病 https://www.baoxiulan.com/rare-diseases/cidp；Pelizaeus-Merzbacher 病 https://www.baoxiulan.com/rare-diseases/pelizaeus-merzbacher-disease；亚历山大病 https://www.baoxiulan.com/rare-diseases/alexander-disease；Canavan 病 https://www.baoxiulan.com/rare-diseases/canavan-disease；Zellweger 谱系障碍 https://www.baoxiulan.com/rare-diseases/zellweger-spectrum-disorder；Menkes 病 https://www.baoxiulan.com/rare-diseases/menkes-disease；Aicardi-Goutières 综合征 https://www.baoxiulan.com/rare-diseases/aicardi-goutieres-syndrome；L1 综合征 https://www.baoxiulan.com/rare-diseases/l1-syndrome；共济失调毛细血管扩张症 https://www.baoxiulan.com/rare-diseases/ataxia-telangiectasia；KCNQ2 相关障碍 https://www.baoxiulan.com/rare-diseases/kcnq2-related-disorders；进行性骨化性纤维发育不良 https://www.baoxiulan.com/rare-diseases/fibrodysplasia-ossificans-progressiva；Dandy-Walker 畸形 https://www.baoxiulan.com/rare-diseases/dandy-walker-malformation；Sturge-Weber 综合征 https://www.baoxiulan.com/rare-diseases/sturge-weber-syndrome；多小脑回 https://www.baoxiulan.com/rare-diseases/polymicrogyria；Bardet-Biedl 综合征 https://www.baoxiulan.com/rare-diseases/bardet-biedl-syndrome；Leber 先天性黑矇 https://www.baoxiulan.com/rare-diseases/leber-congenital-amaurosis；早产儿视网膜病变 https://www.baoxiulan.com/rare-diseases/retinopathy-of-prematurity；儿童罕见病 https://www.baoxiulan.com/rare-diseases；罕见病政策与保障 https://www.baoxiulan.com/rare-diseases/policy）  
  首批 324 家医院：国家级牵头医院 1 家（北京协和医院）、省级牵头医院 32 家、成员医院 291 家；北京市 13 家。
- **[国家卫生健康委员会办公厅. 关于印发罕见病诊疗指南（2019 年版）的通知（国卫办医函〔2019〕198 号）[S]. 国家卫生健康委员会, 2019. (访问于 2026-09-10).](https://www.nhc.gov.cn/yzygj/c100068/201902/073540e8f83b4a54a28684d23e2ae2f5.shtml)**（引用于：脊髓性肌萎缩症 https://www.baoxiulan.com/rare-diseases/spinal-muscular-atrophy；杜氏肌营养不良 https://www.baoxiulan.com/rare-diseases/duchenne-muscular-dystrophy；腓骨肌萎缩症 https://www.baoxiulan.com/rare-diseases/charcot-marie-tooth；肌强直性营养不良 https://www.baoxiulan.com/rare-diseases/myotonic-dystrophy；先天性肌无力综合征 https://www.baoxiulan.com/rare-diseases/congenital-myasthenic-syndrome；遗传性痉挛性截瘫 https://www.baoxiulan.com/rare-diseases/hereditary-spastic-paraplegia；结节性硬化症 https://www.baoxiulan.com/rare-diseases/tuberous-sclerosis；婴儿严重肌阵挛性癫痫 https://www.baoxiulan.com/rare-diseases/dravet-syndrome；Angelman 综合征 https://www.baoxiulan.com/rare-diseases/angelman-syndrome；Prader-Willi 综合征 https://www.baoxiulan.com/rare-diseases/prader-willi-syndrome；威廉姆斯综合征 https://www.baoxiulan.com/rare-diseases/williams-syndrome；Noonan 综合征 https://www.baoxiulan.com/rare-diseases/noonan-syndrome；Silver-Russell 综合征 https://www.baoxiulan.com/rare-diseases/silver-russell-syndrome；苯丙酮尿症 https://www.baoxiulan.com/rare-diseases/phenylketonuria；糖原累积病Ⅱ型 https://www.baoxiulan.com/rare-diseases/pompe-disease；黏多糖贮积症 https://www.baoxiulan.com/rare-diseases/mucopolysaccharidosis；甲基丙二酸血症 https://www.baoxiulan.com/rare-diseases/methylmalonic-acidemia；成骨不全症 https://www.baoxiulan.com/rare-diseases/osteogenesis-imperfecta；低磷性佝偻病 https://www.baoxiulan.com/rare-diseases/hypophosphatemic-rickets；21-羟化酶缺乏症 https://www.baoxiulan.com/rare-diseases/congenital-adrenal-hyperplasia；四氢生物蝶呤缺乏症 https://www.baoxiulan.com/rare-diseases/tetrahydrobiopterin-deficiency；X-连锁肾上腺脑白质营养不良 https://www.baoxiulan.com/rare-diseases/x-linked-adrenoleukodystrophy；线粒体脑肌病 https://www.baoxiulan.com/rare-diseases/mitochondrial-encephalomyopathy；尼曼匹克病 https://www.baoxiulan.com/rare-diseases/niemann-pick-disease；神经节苷脂贮积症 https://www.baoxiulan.com/rare-diseases/gangliosidosis；戊二酸血症Ⅰ型 https://www.baoxiulan.com/rare-diseases/glutaric-acidemia-type-1；枫糖尿症 https://www.baoxiulan.com/rare-diseases/maple-syrup-urine-disease；生物素酶缺乏症 https://www.baoxiulan.com/rare-diseases/biotinidase-deficiency；同型半胱氨酸血症 https://www.baoxiulan.com/rare-diseases/homocystinuria；肝豆状核变性 https://www.baoxiulan.com/rare-diseases/wilson-disease；多巴反应性肌张力障碍 https://www.baoxiulan.com/rare-diseases/dopa-responsive-dystonia；非综合征型耳聋 https://www.baoxiulan.com/rare-diseases/nonsyndromic-hearing-loss；鸟氨酸氨甲酰基转移酶缺乏症 https://www.baoxiulan.com/rare-diseases/ornithine-transcarbamylase-deficiency；瓜氨酸血症 https://www.baoxiulan.com/rare-diseases/citrullinemia；精氨酸酶缺乏症 https://www.baoxiulan.com/rare-diseases/arginase-deficiency；丙酸血症 https://www.baoxiulan.com/rare-diseases/propionic-acidemia；异戊酸血症 https://www.baoxiulan.com/rare-diseases/isovaleric-acidemia；半乳糖血症 https://www.baoxiulan.com/rare-diseases/galactosemia；原发性肉碱缺乏症 https://www.baoxiulan.com/rare-diseases/primary-carnitine-deficiency；戈谢病 https://www.baoxiulan.com/rare-diseases/gaucher-disease；全身型重症肌无力 https://www.baoxiulan.com/rare-diseases/myasthenia-gravis；低碱性磷酸酶血症 https://www.baoxiulan.com/rare-diseases/hypophosphatasia；马凡综合征 https://www.baoxiulan.com/rare-diseases/marfan-syndrome；儿童罕见病 https://www.baoxiulan.com/rare-diseases；罕见病政策与保障 https://www.baoxiulan.com/rare-diseases/policy；急性代谢危象 https://www.baoxiulan.com/rare-diseases/sign/metabolic-crisis；视觉行为异常 https://www.baoxiulan.com/rare-diseases/sign/vision；其他系统 https://www.baoxiulan.com/rare-diseases/category/other）  
  对应第一批目录的 121 种病，由北京协和医院牵头编写。
- **[西安杨森制药有限公司. 麦格司他胶囊（泽维可）说明书[S]. 西安杨森制药有限公司, 2019. (访问于 2026-09-12).](https://www.xian-janssen.com.cn/sites/default/files/PDF/38.ze_wei_ke_.pdf)**（引用于：尼曼匹克病 https://www.baoxiulan.com/rare-diseases/niemann-pick-disease）  
  核准日期 2016 年 11 月 23 日，修改日期 2019 年 4 月 11 日。
- **[国家卫生健康委员会, 科学技术部, 工业和信息化部, 国家药品监督管理局, 国家中医药管理局. 关于公布第一批罕见病目录的通知（国卫医发〔2018〕10 号）[S]. 中国政府网, 2018. (访问于 2026-09-10).](https://www.gov.cn/zhengce/zhengceku/2018-12/31/content_5435167.htm)**（引用于：脊髓性肌萎缩症 https://www.baoxiulan.com/rare-diseases/spinal-muscular-atrophy；杜氏肌营养不良 https://www.baoxiulan.com/rare-diseases/duchenne-muscular-dystrophy；腓骨肌萎缩症 https://www.baoxiulan.com/rare-diseases/charcot-marie-tooth；肌强直性营养不良 https://www.baoxiulan.com/rare-diseases/myotonic-dystrophy；先天性肌无力综合征 https://www.baoxiulan.com/rare-diseases/congenital-myasthenic-syndrome；遗传性痉挛性截瘫 https://www.baoxiulan.com/rare-diseases/hereditary-spastic-paraplegia；结节性硬化症 https://www.baoxiulan.com/rare-diseases/tuberous-sclerosis；婴儿严重肌阵挛性癫痫 https://www.baoxiulan.com/rare-diseases/dravet-syndrome；Angelman 综合征 https://www.baoxiulan.com/rare-diseases/angelman-syndrome；Prader-Willi 综合征 https://www.baoxiulan.com/rare-diseases/prader-willi-syndrome；威廉姆斯综合征 https://www.baoxiulan.com/rare-diseases/williams-syndrome；Noonan 综合征 https://www.baoxiulan.com/rare-diseases/noonan-syndrome；Silver-Russell 综合征 https://www.baoxiulan.com/rare-diseases/silver-russell-syndrome；苯丙酮尿症 https://www.baoxiulan.com/rare-diseases/phenylketonuria；糖原累积病Ⅱ型 https://www.baoxiulan.com/rare-diseases/pompe-disease；黏多糖贮积症 https://www.baoxiulan.com/rare-diseases/mucopolysaccharidosis；甲基丙二酸血症 https://www.baoxiulan.com/rare-diseases/methylmalonic-acidemia；成骨不全症 https://www.baoxiulan.com/rare-diseases/osteogenesis-imperfecta；低磷性佝偻病 https://www.baoxiulan.com/rare-diseases/hypophosphatemic-rickets；21-羟化酶缺乏症 https://www.baoxiulan.com/rare-diseases/congenital-adrenal-hyperplasia；DYRK1A 综合征 https://www.baoxiulan.com/rare-diseases/dyrk1a-syndrome；Kabuki 综合征 https://www.baoxiulan.com/rare-diseases/kabuki-syndrome；Cornelia de Lange 综合征 https://www.baoxiulan.com/rare-diseases/cornelia-de-lange-syndrome；Sotos 综合征 https://www.baoxiulan.com/rare-diseases/sotos-syndrome；21 三体综合征 https://www.baoxiulan.com/rare-diseases/down-syndrome；22q11.2 缺失综合征 https://www.baoxiulan.com/rare-diseases/22q11-deletion；Phelan-McDermid 综合征 https://www.baoxiulan.com/rare-diseases/phelan-mcdermid-syndrome；Smith-Magenis 综合征 https://www.baoxiulan.com/rare-diseases/smith-magenis-syndrome；猫叫综合征 https://www.baoxiulan.com/rare-diseases/cri-du-chat-syndrome；CHARGE 综合征 https://www.baoxiulan.com/rare-diseases/charge-syndrome；SYNGAP1 相关智力障碍 https://www.baoxiulan.com/rare-diseases/syngap1-intellectual-disability；ADNP 综合征 https://www.baoxiulan.com/rare-diseases/adnp-syndrome；CHD8 相关神经发育障碍 https://www.baoxiulan.com/rare-diseases/chd8-neurodevelopmental-disorder；PTEN 错构瘤肿瘤综合征 https://www.baoxiulan.com/rare-diseases/pten-hamartoma-tumor-syndrome；MECP2 重复综合征 https://www.baoxiulan.com/rare-diseases/mecp2-duplication-syndrome；15q11.2-q13.1 重复综合征 https://www.baoxiulan.com/rare-diseases/dup15q-syndrome；Potocki-Lupski 综合征 https://www.baoxiulan.com/rare-diseases/potocki-lupski-syndrome；Pitt-Hopkins 综合征 https://www.baoxiulan.com/rare-diseases/pitt-hopkins-syndrome；Mowat-Wilson 综合征 https://www.baoxiulan.com/rare-diseases/mowat-wilson-syndrome；KBG 综合征 https://www.baoxiulan.com/rare-diseases/kbg-syndrome；Coffin-Siris 综合征 https://www.baoxiulan.com/rare-diseases/coffin-siris-syndrome；Koolen-de Vries 综合征 https://www.baoxiulan.com/rare-diseases/koolen-de-vries-syndrome；7q11.23 重复综合征 https://www.baoxiulan.com/rare-diseases/7q11-duplication；Kleefstra 综合征 https://www.baoxiulan.com/rare-diseases/kleefstra-syndrome；Rubinstein-Taybi 综合征 https://www.baoxiulan.com/rare-diseases/rubinstein-taybi-syndrome；Smith-Lemli-Opitz 综合征 https://www.baoxiulan.com/rare-diseases/smith-lemli-opitz-syndrome；脑肌酸缺乏综合征 https://www.baoxiulan.com/rare-diseases/creatine-deficiency；GLUT1 缺乏综合征 https://www.baoxiulan.com/rare-diseases/glut1-deficiency；神经元蜡样脂褐质沉积症 https://www.baoxiulan.com/rare-diseases/neuronal-ceroid-lipofuscinosis；四氢生物蝶呤缺乏症 https://www.baoxiulan.com/rare-diseases/tetrahydrobiopterin-deficiency；X-连锁肾上腺脑白质营养不良 https://www.baoxiulan.com/rare-diseases/x-linked-adrenoleukodystrophy；线粒体脑肌病 https://www.baoxiulan.com/rare-diseases/mitochondrial-encephalomyopathy；尼曼匹克病 https://www.baoxiulan.com/rare-diseases/niemann-pick-disease；神经节苷脂贮积症 https://www.baoxiulan.com/rare-diseases/gangliosidosis；戊二酸血症Ⅰ型 https://www.baoxiulan.com/rare-diseases/glutaric-acidemia-type-1；枫糖尿症 https://www.baoxiulan.com/rare-diseases/maple-syrup-urine-disease；生物素酶缺乏症 https://www.baoxiulan.com/rare-diseases/biotinidase-deficiency；同型半胱氨酸血症 https://www.baoxiulan.com/rare-diseases/homocystinuria；肝豆状核变性 https://www.baoxiulan.com/rare-diseases/wilson-disease；多巴反应性肌张力障碍 https://www.baoxiulan.com/rare-diseases/dopa-responsive-dystonia；Lennox-Gastaut 综合征 https://www.baoxiulan.com/rare-diseases/lennox-gastaut-syndrome；非综合征型耳聋 https://www.baoxiulan.com/rare-diseases/nonsyndromic-hearing-loss；1p36 缺失综合征 https://www.baoxiulan.com/rare-diseases/chromosome-1p36-deletion；Wolf-Hirschhorn 综合征 https://www.baoxiulan.com/rare-diseases/wolf-hirschhorn-syndrome；Joubert 综合征 https://www.baoxiulan.com/rare-diseases/joubert-syndrome；无脑回畸形 https://www.baoxiulan.com/rare-diseases/lissencephaly；FOXG1 综合征 https://www.baoxiulan.com/rare-diseases/foxg1-syndrome；STXBP1 相关发育性癫痫性脑病 https://www.baoxiulan.com/rare-diseases/stxbp1-encephalopathy；CTNNB1 相关神经发育障碍 https://www.baoxiulan.com/rare-diseases/ctnnb1-syndrome；SATB2 相关障碍 https://www.baoxiulan.com/rare-diseases/satb2-syndrome；鸟氨酸氨甲酰基转移酶缺乏症 https://www.baoxiulan.com/rare-diseases/ornithine-transcarbamylase-deficiency；瓜氨酸血症 https://www.baoxiulan.com/rare-diseases/citrullinemia；精氨酸酶缺乏症 https://www.baoxiulan.com/rare-diseases/arginase-deficiency；丙酸血症 https://www.baoxiulan.com/rare-diseases/propionic-acidemia；异戊酸血症 https://www.baoxiulan.com/rare-diseases/isovaleric-acidemia；半乳糖血症 https://www.baoxiulan.com/rare-diseases/galactosemia；原发性肉碱缺乏症 https://www.baoxiulan.com/rare-diseases/primary-carnitine-deficiency；戈谢病 https://www.baoxiulan.com/rare-diseases/gaucher-disease；全身型重症肌无力 https://www.baoxiulan.com/rare-diseases/myasthenia-gravis；低碱性磷酸酶血症 https://www.baoxiulan.com/rare-diseases/hypophosphatasia；马凡综合征 https://www.baoxiulan.com/rare-diseases/marfan-syndrome；面肩肱型肌营养不良症 https://www.baoxiulan.com/rare-diseases/facioscapulohumeral-muscular-dystrophy；先天性肌营养不良（胶原Ⅵ相关肌病） https://www.baoxiulan.com/rare-diseases/congenital-muscular-dystrophy；慢性炎性脱髓鞘性多发性神经根神经病 https://www.baoxiulan.com/rare-diseases/cidp；Pelizaeus-Merzbacher 病 https://www.baoxiulan.com/rare-diseases/pelizaeus-merzbacher-disease；亚历山大病 https://www.baoxiulan.com/rare-diseases/alexander-disease；Canavan 病 https://www.baoxiulan.com/rare-diseases/canavan-disease；Zellweger 谱系障碍 https://www.baoxiulan.com/rare-diseases/zellweger-spectrum-disorder；Menkes 病 https://www.baoxiulan.com/rare-diseases/menkes-disease；Aicardi-Goutières 综合征 https://www.baoxiulan.com/rare-diseases/aicardi-goutieres-syndrome；L1 综合征 https://www.baoxiulan.com/rare-diseases/l1-syndrome；共济失调毛细血管扩张症 https://www.baoxiulan.com/rare-diseases/ataxia-telangiectasia；KCNQ2 相关障碍 https://www.baoxiulan.com/rare-diseases/kcnq2-related-disorders；进行性骨化性纤维发育不良 https://www.baoxiulan.com/rare-diseases/fibrodysplasia-ossificans-progressiva；Dandy-Walker 畸形 https://www.baoxiulan.com/rare-diseases/dandy-walker-malformation；Sturge-Weber 综合征 https://www.baoxiulan.com/rare-diseases/sturge-weber-syndrome；多小脑回 https://www.baoxiulan.com/rare-diseases/polymicrogyria；Bardet-Biedl 综合征 https://www.baoxiulan.com/rare-diseases/bardet-biedl-syndrome；Leber 先天性黑矇 https://www.baoxiulan.com/rare-diseases/leber-congenital-amaurosis；早产儿视网膜病变 https://www.baoxiulan.com/rare-diseases/retinopathy-of-prematurity；儿童罕见病 https://www.baoxiulan.com/rare-diseases；罕见病政策与保障 https://www.baoxiulan.com/rare-diseases/policy；急性代谢危象 https://www.baoxiulan.com/rare-diseases/sign/metabolic-crisis；视觉行为异常 https://www.baoxiulan.com/rare-diseases/sign/vision；其他系统 https://www.baoxiulan.com/rare-diseases/category/other；术语表 https://www.baoxiulan.com/glossary）  
  收录 121 种罕见病。
- **[全国人民代表大会常务委员会. 中华人民共和国精神卫生法（2018 年修正）[S]. 中国政府网, 2018. (访问于 2026-09-07).](https://www.gov.cn/guoqing/2021-10/29/content_5647635.htm)**（引用于：多动症 ADHD https://www.baoxiulan.com/services/adhd；术语表 https://www.baoxiulan.com/glossary）
- **[国家卫生计生委. 0 岁～5 岁儿童睡眠卫生指南 WS/T 579—2017[S]. 中华人民共和国卫生行业标准, 2017. (访问于 2026-09-07).](https://www.nhc.gov.cn/ewebeditor/uploadfile/2017/10/20171026154305316.pdf)**（引用于：注意力缺陷 https://www.baoxiulan.com/services/attention；多动症 ADHD https://www.baoxiulan.com/services/adhd；家庭育儿指导课程 https://www.baoxiulan.com/services/parenting；术语表 https://www.baoxiulan.com/glossary）
- **[国家卫生计生委. 0 岁～6 岁儿童发育行为评估量表 WS/T 580—2017[S]. 中华人民共和国卫生行业标准, 2017. (访问于 2026-09-07).](https://www.ecphf.cn/Women-children-health/2017-11/4582.htm)**（引用于：高危儿 / 早产儿早期干预 https://www.baoxiulan.com/services/high-risk-infant；脑瘫患儿康复干预 https://www.baoxiulan.com/services/cerebral-palsy；自闭症谱系障碍 ASD https://www.baoxiulan.com/services/autism；言语发音障碍 https://www.baoxiulan.com/services/speech-language；全面发育落后 https://www.baoxiulan.com/services/developmental-delay；感觉统合障碍 https://www.baoxiulan.com/services/sensory-integration；注意力缺陷 https://www.baoxiulan.com/services/attention；心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment；家庭育儿指导课程 https://www.baoxiulan.com/services/parenting；儿童罕见病 https://www.baoxiulan.com/rare-diseases；肌张力低下 https://www.baoxiulan.com/rare-diseases/sign/hypotonia；粗大运动发育落后 https://www.baoxiulan.com/rare-diseases/sign/late-walking；语言发育迟缓 https://www.baoxiulan.com/rare-diseases/sign/no-speech；全面发育迟缓 https://www.baoxiulan.com/rare-diseases/sign/global-delay；癫痫发作 https://www.baoxiulan.com/rare-diseases/sign/seizure；头围增长异常 https://www.baoxiulan.com/rare-diseases/sign/head-size；共济失调 https://www.baoxiulan.com/rare-diseases/sign/ataxia；身材矮小 https://www.baoxiulan.com/rare-diseases/sign/short-stature；咖啡牛奶斑、色素脱失斑与鲜红斑痣 https://www.baoxiulan.com/rare-diseases/sign/skin-marks；宝秀兰儿童神经发育综合评估系统 https://www.baoxiulan.com/bxl-cna；评估量表一览 https://www.baoxiulan.com/assessments；术语表 https://www.baoxiulan.com/glossary）
- **[国家卫生计生委. 国家基本公共卫生服务规范（第三版）：0～6 岁儿童健康管理服务规范（国卫基层发〔2017〕13 号）[S]. 国家卫生计生委, 2017. (访问于 2026-09-07).](https://www.nhc.gov.cn/ewebeditor/uploadfile/2017/04/20170417104506514.pdf)**（引用于：全面发育落后 https://www.baoxiulan.com/services/developmental-delay；注意力缺陷 https://www.baoxiulan.com/services/attention；心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment；评估量表一览 https://www.baoxiulan.com/assessments；术语表 https://www.baoxiulan.com/glossary）
- **[国家卫生计生委办公厅. 早产儿保健工作规范（国卫办妇幼发〔2017〕9 号）[S]. 国家卫生计生委, 2017. (访问于 2026-09-07).](https://www.ecphf.cn/Women-children-health/2017-03/4079.htm)**（引用于：高危儿 / 早产儿早期干预 https://www.baoxiulan.com/services/high-risk-infant；心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment；早期综合训练 https://www.baoxiulan.com/programs/early；0～1 岁神经运动 20 项检查 https://www.baoxiulan.com/bxl-ina；术语表 https://www.baoxiulan.com/glossary）
- **中华医学会眼科学分会眼底病学组. 中国早产儿视网膜病变筛查指南（2014 年）[S]. 中华眼科杂志, 2014. (访问于 2026-09-12). DOI: 10.3760/cma.j.issn.0412-4081.2014.12.017.**（引用于：早产儿视网膜病变 https://www.baoxiulan.com/rare-diseases/retinopathy-of-prematurity）  
  规定我国早产儿视网膜病变的筛查对象、初次筛查时间、随访间隔与终止筛查条件。
- **[国家卫生计生委办公厅. 儿童心理保健技术规范（含儿童心理行为发育问题预警征象筛查表）[S]. 国家卫生计生委, 2013. (访问于 2026-09-07).](https://www.ecphf.cn/Women-children-health/2013-04/1731.htm)**（引用于：高危儿 / 早产儿早期干预 https://www.baoxiulan.com/services/high-risk-infant；脑瘫患儿康复干预 https://www.baoxiulan.com/services/cerebral-palsy；自闭症谱系障碍 ASD https://www.baoxiulan.com/services/autism；言语发音障碍 https://www.baoxiulan.com/services/speech-language；全面发育落后 https://www.baoxiulan.com/services/developmental-delay；心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment；言语认知训练 https://www.baoxiulan.com/programs/speech；运动训练 https://www.baoxiulan.com/programs/motor；作业训练 https://www.baoxiulan.com/programs/ot；儿童罕见病 https://www.baoxiulan.com/rare-diseases；肌张力低下 https://www.baoxiulan.com/rare-diseases/sign/hypotonia；粗大运动发育落后 https://www.baoxiulan.com/rare-diseases/sign/late-walking；语言发育迟缓 https://www.baoxiulan.com/rare-diseases/sign/no-speech；宝秀兰儿童神经发育综合评估系统 https://www.baoxiulan.com/bxl-cna；评估量表一览 https://www.baoxiulan.com/assessments；术语表 https://www.baoxiulan.com/glossary）
- **[中华人民共和国教育部. 3-6 岁儿童学习与发展指南（教基二〔2012〕4 号）[S]. 中华人民共和国教育部, 2012. (访问于 2026-09-10).](http://www.moe.gov.cn/srcsite/A06/s3327/201210/t20121009_143254.html)**（引用于：宝秀兰儿童神经发育综合评估系统 https://www.baoxiulan.com/bxl-cna）  
  五个领域 11 个方面 32 个目标，按 3～4 岁、4～5 岁、5～6 岁三段列典型表现
- **[卫生部办公厅. 儿童孤独症诊疗康复指南（卫办医政发〔2010〕123 号）[S]. 卫生部, 2010. (访问于 2026-09-07).](http://medi-guide.meditool.cn/ymtpdf/4E7EFF56-E1D8-7F07-315D-2AB7BB7BB302.pdf)**（引用于：自闭症谱系障碍 ASD https://www.baoxiulan.com/services/autism；感觉统合障碍 https://www.baoxiulan.com/services/sensory-integration；融合教育 https://www.baoxiulan.com/programs/inclusion；行为矫正训练 https://www.baoxiulan.com/programs/behavior；感觉统合训练 https://www.baoxiulan.com/programs/sensory；评估量表一览 https://www.baoxiulan.com/assessments；术语表 https://www.baoxiulan.com/glossary）
- **[中华人民共和国卫生部. 新生儿疾病筛查管理办法（卫生部令第 64 号）[S]. 中国政府网, 2009. (访问于 2026-09-10).](https://www.gov.cn/zhengce/2009-02/16/content_5713787.htm)**（引用于：脊髓性肌萎缩症 https://www.baoxiulan.com/rare-diseases/spinal-muscular-atrophy；苯丙酮尿症 https://www.baoxiulan.com/rare-diseases/phenylketonuria；21-羟化酶缺乏症 https://www.baoxiulan.com/rare-diseases/congenital-adrenal-hyperplasia；原发性生长激素缺乏症 https://www.baoxiulan.com/rare-diseases/growth-hormone-deficiency；罕见病政策与保障 https://www.baoxiulan.com/rare-diseases/policy；新生儿筛查结果异常 https://www.baoxiulan.com/rare-diseases/sign/newborn-screening；遗传代谢病 https://www.baoxiulan.com/rare-diseases/category/metabolic）  
  全国统一筛查先天性甲状腺功能减低症、苯丙酮尿症等新生儿遗传代谢病和听力障碍。

## 指南与专家共识（46）

- **中华医学会罕见病分会, 中华医学会儿科学分会内分泌遗传代谢学组, 中国优生优育协会出生缺陷防控专业委员会新生儿遗传代谢病筛查学组. 21-羟化酶缺乏症临床管理指南（2026）[J]. 中华儿科杂志, 2026, 64(6): 590-600. DOI: 10.3760/cma.j.cn112140-20251204-01073.**（引用于：21-羟化酶缺乏症 https://www.baoxiulan.com/rare-diseases/congenital-adrenal-hyperplasia）
- **[中华医学会物理医学与康复学分会言语语言康复学组, 中国康复医学会言语康复专业委员会, 中华医学会儿科学分会康复学组. 发展性语言障碍早期识别专家建议（2025）[J]. 中华儿科杂志, 2025, 63(6): 600-605. DOI: 10.3760/cma.j.cn112140-20250115-00038.](https://rs.yiigle.com/cmaid/1541769)**（引用于：言语发音障碍 https://www.baoxiulan.com/services/speech-language；言语认知训练 https://www.baoxiulan.com/programs/speech；语言发育迟缓 https://www.baoxiulan.com/rare-diseases/sign/no-speech；评估量表一览 https://www.baoxiulan.com/assessments；训练器材与教具 https://www.baoxiulan.com/equipment；术语表 https://www.baoxiulan.com/glossary）
- **[首都儿童医学中心, 中华预防医学会儿童保健分会, 中国妇幼保健协会儿童早期发展专业委员会, 等. 学习困难门诊的规范化建设专家共识[J]. 中国儿童保健杂志, 2025, 33(4): 349-354. DOI: 10.11852/zgetbjzz2025-0286.](http://cjchc.xjtu.edu.cn/EN/10.11852/zgetbjzz2025-0286)**（引用于：学习障碍 https://www.baoxiulan.com/services/learning-disability；作业训练 https://www.baoxiulan.com/programs/ot；术语表 https://www.baoxiulan.com/glossary）
- **《中国杜氏肌营养不良携带者筛查的临床实践指南》制订组. 中国杜氏肌营养不良携带者筛查的临床实践指南[J]. 国际神经病学神经外科学杂志, 2024, 51(1): 1-6. DOI: 10.16636/j.cnki.jinn.1673-2642.2024.01.001.**（引用于：杜氏肌营养不良 https://www.baoxiulan.com/rare-diseases/duchenne-muscular-dystrophy）
- **中华医学会儿科学分会内分泌遗传代谢学组. 中国儿童生长激素缺乏症诊断和治疗指南[J]. 中华儿科杂志, 2024, 62(1): 5-11. DOI: 10.3760/cma.j.cn112140-20230914-00183.**（引用于：原发性生长激素缺乏症 https://www.baoxiulan.com/rare-diseases/growth-hormone-deficiency）
- **[国家儿童医学中心, 首都医科大学附属北京儿童医院保健中心, 等. 中国全面发育迟缓诊断指南（2024）[J]. 中华实用儿科临床杂志, 2024, 39(7): 481-489. DOI: 10.3760/cma.j.cn101070-20240426-00262.](https://rs.yiigle.com/cmaid/1506365)**（引用于：全面发育落后 https://www.baoxiulan.com/services/developmental-delay；心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment；全面发育迟缓 https://www.baoxiulan.com/rare-diseases/sign/global-delay；评估量表一览 https://www.baoxiulan.com/assessments；术语表 https://www.baoxiulan.com/glossary）
- **[Lacombe D, Bloch-Zupan A, Bredrup C, 等. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement[J]. Journal of Medical Genetics, 2024, 61(6): 503-519. DOI: 10.1136/jmg-2023-109438.](https://pmc.ncbi.nlm.nih.gov/articles/PMC11137475/)**（引用于：Rubinstein-Taybi 综合征 https://www.baoxiulan.com/rare-diseases/rubinstein-taybi-syndrome）  
  多国专家与患者组织共同制定的诊断与管理共识，含临床评分标准。
- **[中华医学会儿科学分会康复学组. 儿童康复临床中喂养障碍的评估及管理专家共识[J]. 中国实用儿科杂志, 2023, 38(8): 561-566. DOI: 10.19538/j.ek2023080601.](https://www.zgsyz.com/zgsyek/CN/10.19538/j.ek2023080601)**（引用于：喂养困难 / 营养咨询 https://www.baoxiulan.com/services/feeding；言语认知训练 https://www.baoxiulan.com/programs/speech；训练器材与教具 https://www.baoxiulan.com/equipment；术语表 https://www.baoxiulan.com/glossary）
- **[儿童铁缺乏和缺铁性贫血防治专家共识[J]. 中国实用儿科杂志, 2023, 38(3): 161-167. DOI: 10.19538/j.ek2023030601.](https://www.zgsyz.com/zgsyek/CN/10.19538/j.ek2023030601)**（引用于：喂养困难 / 营养咨询 https://www.baoxiulan.com/services/feeding）
- **[静进, 欧萍, 徐海青, 等. 儿童心理行为专科建设专家共识[J]. 中国儿童保健杂志, 2023, 31(9): 929-934. DOI: 10.11852/zgetbjzz2023-0679.](https://cjchc.xjtu.edu.cn/CN/10.11852/zgetbjzz2023-0679)**（引用于：心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment）
- **[中华医学会儿科学分会新生儿学组, 中华儿科杂志编辑委员会. 高危新生儿分类分级管理专家共识（2023）[J]. 中华儿科杂志, 2023, 61(10): 869-873. DOI: 10.3760/cma.j.cn112140-20230630-00434.](https://rs.yiigle.com/cmaid/1475060)**（引用于：高危儿 / 早产儿早期干预 https://www.baoxiulan.com/services/high-risk-infant；心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment；家庭育儿指导课程 https://www.baoxiulan.com/services/parenting；早期综合训练 https://www.baoxiulan.com/programs/early；运动训练 https://www.baoxiulan.com/programs/motor；肌张力低下 https://www.baoxiulan.com/rare-diseases/sign/hypotonia；粗大运动发育落后 https://www.baoxiulan.com/rare-diseases/sign/late-walking；0～1 岁神经运动 20 项检查 https://www.baoxiulan.com/bxl-ina；术语表 https://www.baoxiulan.com/glossary）
- **[中国医师协会新生儿科医师分会循证专业委员会. 早产儿和低出生体重儿袋鼠式护理临床实践指南（2022）[J]. 中国循证医学杂志, 2023, 23(3): 249-264. DOI: 10.7507/1672-2531.202209145.](https://www.cjebm.com/article/10.7507/1672-2531.202209145)**（引用于：高危儿 / 早产儿早期干预 https://www.baoxiulan.com/services/high-risk-infant；早期综合训练 https://www.baoxiulan.com/programs/early）
- **[中华医学会儿科学分会内分泌遗传代谢学组, 中华儿科杂志编辑委员会. 中枢性性早熟诊断与治疗专家共识（2022）[J]. 中华儿科杂志, 2023, 61(1): 16-22. DOI: 10.3760/cma.j.cn112140-20220802-00693.](https://rs.yiigle.com/cmaid/1437506)**（引用于：喂养困难 / 营养咨询 https://www.baoxiulan.com/services/feeding；术语表 https://www.baoxiulan.com/glossary）
- **[中华医学会儿科学分会康复学组. 儿童康复相关发育性疾病的命名现状与建议[J]. 中国全科医学, 2022, 25(8): 899-904. DOI: 10.12114/j.issn.1007-9572.2022.01.301.](https://www.chinagp.net/CN/10.12114/j.issn.1007-9572.2022.01.301)**（引用于：言语发音障碍 https://www.baoxiulan.com/services/speech-language；全面发育落后 https://www.baoxiulan.com/services/developmental-delay；感觉统合障碍 https://www.baoxiulan.com/services/sensory-integration；遗传性痉挛性截瘫 https://www.baoxiulan.com/rare-diseases/hereditary-spastic-paraplegia；语言发育迟缓 https://www.baoxiulan.com/rare-diseases/sign/no-speech；全面发育迟缓 https://www.baoxiulan.com/rare-diseases/sign/global-delay；术语表 https://www.baoxiulan.com/glossary）
- **中华医学会儿科学分会神经学组, 张慈柳, 洪思琦, 等. 儿童神经系统疾病糖皮质激素治疗专家系列建议之六——进行性假肥大型肌营养不良的治疗[J]. 中国实用儿科杂志, 2022, 37(5): 343-346. DOI: 10.19538/j.ek2022050607.**（引用于：杜氏肌营养不良 https://www.baoxiulan.com/rare-diseases/duchenne-muscular-dystrophy）
- **[中国优生优育协会婴幼儿发育专业委员会. 高危新生儿行为神经发育早期干预专家共识[J]. 中国儿童保健杂志, 2022, 30(3): 233-236. DOI: 10.11852/zgetbjzz2021-0625.](http://cjchc.xjtu.edu.cn/CN/10.11852/zgetbjzz2021-0625)**（引用于：高危儿 / 早产儿早期干预 https://www.baoxiulan.com/services/high-risk-infant；NBNA 方法页 https://www.baoxiulan.com/nbna）
- **[中国康复医学会儿童康复专业委员会, 等. 中国脑性瘫痪康复指南（2022）第二章：脑性瘫痪高危儿的评定与干预[J]. 中华实用儿科临床杂志, 2022.](https://rs.yiigle.com/cmaid/1411655)**（引用于：脑瘫患儿康复干预 https://www.baoxiulan.com/services/cerebral-palsy；早期综合训练 https://www.baoxiulan.com/programs/early）
- **[中国康复医学会儿童康复专业委员会, 等. 中国脑性瘫痪康复指南（2022）第一章：概论[J]. 中华实用儿科临床杂志, 2022, 37(12): 887-892.](https://rs.yiigle.com/CN101070202212/1388114.htm)**（引用于：脑瘫患儿康复干预 https://www.baoxiulan.com/services/cerebral-palsy；运动训练 https://www.baoxiulan.com/programs/motor；训练器材与教具 https://www.baoxiulan.com/equipment）
- **[Duis J, Nespeca M, Summers J, 等. A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome[J]. Molecular Genetics & Genomic Medicine, 2022, 10(3): e1843. DOI: 10.1002/mgg3.1843.](https://onlinelibrary.wiley.com/doi/10.1002/mgg3.1843)**（引用于：Angelman 综合征 https://www.baoxiulan.com/rare-diseases/angelman-syndrome；癫痫发作 https://www.baoxiulan.com/rare-diseases/sign/seizure；共济失调 https://www.baoxiulan.com/rare-diseases/sign/ataxia；染色体与印记异常 https://www.baoxiulan.com/rare-diseases/category/chromosomal；神经发育障碍与癫痫性脑病 https://www.baoxiulan.com/rare-diseases/category/neurodevelopmental）
- **[Dai Y L, Zou C C, 等. Consensus statements for diagnosis and management of Prader-Willi syndrome in China[J]. Orphanet Journal of Rare Diseases, 2022, 17: 221. DOI: 10.1186/s13023-022-02302-z.](https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02302-z)**（引用于：Prader-Willi 综合征 https://www.baoxiulan.com/rare-diseases/prader-willi-syndrome）  
  中华医学会儿科学分会罕见病学组等联合发布的中国诊治建议。
- **Specchio N, Wirrell E C, Scheffer I E, 等. International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: position paper by the ILAE Task Force on Nosology and Definitions[J]. Epilepsia, 2022, 63(6): 1398-1442. DOI: 10.1111/epi.17241.**（引用于：Lennox-Gastaut 综合征 https://www.baoxiulan.com/rare-diseases/lennox-gastaut-syndrome）  
  Lennox-Gastaut 综合征列为儿童期起病的五个发育性和／或癫痫性脑病之一。
- **[Morgan C, Fetters L, Adde L, 等. Early intervention for children aged 0 to 2 years with or at high risk of cerebral palsy: international clinical practice guideline based on systematic reviews[J]. JAMA Pediatrics, 2021, 175(8): 846-858. DOI: 10.1001/jamapediatrics.2021.0878.](https://doi.org/10.1001/jamapediatrics.2021.0878)**（引用于：脑瘫患儿康复干预 https://www.baoxiulan.com/services/cerebral-palsy；运动训练 https://www.baoxiulan.com/programs/motor）
- **[Van den Bergh PYK, van Doorn PA, Hadden RDM, 等. European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force—Second revision[J]. Journal of the Peripheral Nervous System, 2021, 26(3): 242-268. DOI: 10.1111/jns.12455.](https://pubmed.ncbi.nlm.nih.gov/34085743/)**（引用于：慢性炎性脱髓鞘性多发性神经根神经病 https://www.baoxiulan.com/rare-diseases/cidp）  
  欧洲神经病学学会与周围神经学会联合工作组的第二次修订版，是慢性炎性脱髓鞘性多发性神经根神经病诊治的国际参考。
- **[Mole S E, Schulz A, Badoe E, 等. Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients[J]. Orphanet Journal of Rare Diseases, 2021, 16(1): 185. DOI: 10.1186/s13023-021-01813-5.](https://pmc.ncbi.nlm.nih.gov/articles/PMC8059011/)**（引用于：神经元蜡样脂褐质沉积症 https://www.baoxiulan.com/rare-diseases/neuronal-ceroid-lipofuscinosis）  
  21 名国际专家以德尔菲法制定的 CLN2 病指南，共 53 条推荐。
- **[中华医学会医学遗传学分会遗传病临床实践指南撰写组, 谭虎, 梁德生, 等. 杜氏进行性肌营养不良的临床实践指南[J]. 中华医学遗传学杂志, 2020, 37(3): 258-262. DOI: 10.3760/cma.j.issn.1003-9406.2020.03.006.](https://rs.yiigle.com/cmaid/1190191)**（引用于：杜氏肌营养不良 https://www.baoxiulan.com/rare-diseases/duchenne-muscular-dystrophy；儿童罕见病 https://www.baoxiulan.com/rare-diseases；发育倒退 https://www.baoxiulan.com/rare-diseases/sign/regression；粗大运动发育落后 https://www.baoxiulan.com/rare-diseases/sign/late-walking；血清肌酸激酶升高 https://www.baoxiulan.com/rare-diseases/sign/high-ck；神经肌肉病 https://www.baoxiulan.com/rare-diseases/category/neuromuscular）
- **[北京医学会医学遗传学分会, 北京罕见病诊疗与保障学会. 脊髓性肌萎缩症遗传学诊断专家共识[J]. 中华医学杂志, 2020, 100(40): 3130-3140. DOI: 10.3760/cma.j.cn112137-20200803-02267.](https://rs.yiigle.com/cmaid/1256214)**（引用于：脊髓性肌萎缩症 https://www.baoxiulan.com/rare-diseases/spinal-muscular-atrophy；杜氏肌营养不良 https://www.baoxiulan.com/rare-diseases/duchenne-muscular-dystrophy；Prader-Willi 综合征 https://www.baoxiulan.com/rare-diseases/prader-willi-syndrome；儿童罕见病 https://www.baoxiulan.com/rare-diseases；肌张力低下 https://www.baoxiulan.com/rare-diseases/sign/hypotonia；喂养困难 https://www.baoxiulan.com/rare-diseases/sign/feeding；神经肌肉病 https://www.baoxiulan.com/rare-diseases/category/neuromuscular）
- **[中华医学会儿科学分会发育行为学组. 注意缺陷多动障碍早期识别、规范诊断和治疗的儿科专家共识[J]. 中华儿科杂志, 2020, 58(3): 188-193. DOI: 10.3760/cma.j.issn.0578-1310.2020.03.006.](https://rs.yiigle.com/CN112140202003/1183502.htm)**（引用于：注意力缺陷 https://www.baoxiulan.com/services/attention；多动症 ADHD https://www.baoxiulan.com/services/adhd；学习障碍 https://www.baoxiulan.com/services/learning-disability；术语表 https://www.baoxiulan.com/glossary）
- **[Opladen T, López-Laso E, Cortès-Saladelafont E, 等. Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies[J]. Orphanet Journal of Rare Diseases, 2020, 15(1): 126. DOI: 10.1186/s13023-020-01379-8.](https://pmc.ncbi.nlm.nih.gov/articles/PMC7251883/)**（引用于：四氢生物蝶呤缺乏症 https://www.baoxiulan.com/rare-diseases/tetrahydrobiopterin-deficiency）  
  国际神经递质相关疾病工作组（iNTD）制定的共识指南。
- **[Fu C, Armstrong D, Marsh E, 等. Consensus guidelines on managing Rett syndrome across the lifespan[J]. BMJ Paediatrics Open, 2020, 4(1): e000717. DOI: 10.1136/bmjpo-2020-000717.](https://bmjpaedsopen.bmj.com/content/4/1/e000717)**（引用于：Rett 综合征 https://www.baoxiulan.com/rare-diseases/rett-syndrome）
- **[Klepper J, Akman C, Armeno M, 等. Glut1 Deficiency Syndrome (Glut1DS): state of the art in 2020 and recommendations of the international Glut1DS study group[J]. Epilepsia Open, 2020, 5(3): 354-365. DOI: 10.1002/epi4.12414.](https://pmc.ncbi.nlm.nih.gov/articles/PMC7469861/)**（引用于：GLUT1 缺乏综合征 https://www.baoxiulan.com/rare-diseases/glut1-deficiency）  
  国际 GLUT1 缺乏综合征研究组的诊断与治疗共识。
- **[中华医学会医学遗传学分会遗传病临床实践指南撰写组, 关荣伟, 李秋炎, 等. Rett 综合征的临床实践指南[J]. 中华医学遗传学杂志, 2020, 37(3): 308-312.](https://rs.yiigle.com/cmaid/1190186)**（引用于：Rett 综合征 https://www.baoxiulan.com/rare-diseases/rett-syndrome）
- **[北京医学会罕见病分会, 北京医学会神经内科分会神经肌肉病学组, 中国肌萎缩侧索硬化协作组. 脊髓性肌萎缩症多学科管理专家共识[J]. 中华医学杂志, 2019, 99(19): 1460-1467. DOI: 10.3760/cma.j.issn.0376-2491.2019.19.006.](https://rs.yiigle.com/cmaid/1131372)**（引用于：脊髓性肌萎缩症 https://www.baoxiulan.com/rare-diseases/spinal-muscular-atrophy；儿童罕见病 https://www.baoxiulan.com/rare-diseases；肌张力低下 https://www.baoxiulan.com/rare-diseases/sign/hypotonia；粗大运动发育落后 https://www.baoxiulan.com/rare-diseases/sign/late-walking；喂养困难 https://www.baoxiulan.com/rare-diseases/sign/feeding；血清肌酸激酶升高 https://www.baoxiulan.com/rare-diseases/sign/high-ck；神经肌肉病 https://www.baoxiulan.com/rare-diseases/category/neuromuscular）
- **[Wolraich ML, Hagan JF, Allan C, 等. Clinical practice guideline for the diagnosis, evaluation, and treatment of attention-deficit/hyperactivity disorder in children and adolescents[J]. Pediatrics, 2019, 144(4): e20192528.](https://pubmed.ncbi.nlm.nih.gov/31570648/)**（引用于：注意力缺陷 https://www.baoxiulan.com/services/attention；多动症 ADHD https://www.baoxiulan.com/services/adhd；学习障碍 https://www.baoxiulan.com/services/learning-disability；家庭育儿指导课程 https://www.baoxiulan.com/services/parenting；术语表 https://www.baoxiulan.com/glossary）
- **[中华医学会儿科学分会神经学组, 中国医师协会神经内科分会儿童神经疾病专业委员会. 儿童智力障碍或全面发育迟缓病因诊断策略专家共识[J]. 中华儿科杂志, 2018, 56(11): 806-810. DOI: 10.3760/cma.j.issn.0578-1310.2018.11.003.](https://www.sohu.com/a/281881999_387855)**（引用于：全面发育落后 https://www.baoxiulan.com/services/developmental-delay；全面发育迟缓 https://www.baoxiulan.com/rare-diseases/sign/global-delay）
- **Mercuri E, Finkel R S, Muntoni F, 等. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care[J]. Neuromuscular Disorders, 2018, 28(2): 103-115. DOI: 10.1016/j.nmd.2017.11.005.**（引用于：脊髓性肌萎缩症 https://www.baoxiulan.com/rare-diseases/spinal-muscular-atrophy）
- **[中华医学会儿科学分会发育行为学组, 中国医师协会儿科分会儿童保健专业委员会, 儿童孤独症诊断与防治技术和标准研究项目专家组. 孤独症谱系障碍儿童早期识别筛查和早期干预专家共识[J]. 中华儿科杂志, 2017, 55(12): 890-897. DOI: 10.3760/cma.j.issn.0578-1310.2017.12.004.](https://gpedu.yiigle.com/uploads/guide_html/%E5%AD%A4%E7%8B%AC%E7%97%87%E8%B0%B1%E7%B3%BB%E9%9A%9C%E7%A2%8D%E5%84%BF%E7%AB%A5%E6%97%A9%E6%9C%9F%E8%AF%86%E5%88%AB%E7%AD%9B%E6%9F%A5%E5%92%8C%E6%97%A9%E6%9C%9F%E5%B9%B2%E9%A2%84%E4%B8%93%E5%AE%B6%E5%85%B1%E8%AF%86.html)**（引用于：自闭症谱系障碍 ASD https://www.baoxiulan.com/services/autism；言语发音障碍 https://www.baoxiulan.com/services/speech-language）
- **[中华医学会儿科学分会康复学组. 新生儿重症监护病房神经行为发育评估方法专家指导意见[J]. 中国实用儿科杂志, 2017, 32(11): 801-806. DOI: 10.19538/j.ek2017110601.](http://medi-guide.meditool.cn/ymtpdf/C18D3D09-D36D-4F60-34AB-09298D748E47.pdf)**（引用于：高危儿 / 早产儿早期干预 https://www.baoxiulan.com/services/high-risk-infant；鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan；NBNA 方法页 https://www.baoxiulan.com/nbna）
- **Wakeling E L, Brioude F, Lokulo-Sodipe O, 等. Diagnosis and management of Silver-Russell syndrome: first international consensus statement[J]. Nature Reviews Endocrinology, 2017, 13(2): 105-124. DOI: 10.1038/nrendo.2016.138.**（引用于：Silver-Russell 综合征 https://www.baoxiulan.com/rare-diseases/silver-russell-syndrome）
- **[《中华儿科杂志》编辑委员会, 中华医学会儿科学分会儿童保健学组, 中华医学会儿科学分会新生儿学组. 早产、低出生体重儿出院后喂养建议[J]. 中华儿科杂志, 2016, 54(1): 6-12. DOI: 10.3760/cma.j.issn.0578-1310.2016.01.003.](https://seleguide.yiigle.com/uploads/guide_html/%E6%97%A9%E4%BA%A7%E3%80%81%E4%BD%8E%E5%87%BA%E7%94%9F%E4%BD%93%E9%87%8D%E5%84%BF%E5%87%BA%E9%99%A2%E5%90%8E%E5%96%82%E5%85%BB%E5%BB%BA%E8%AE%AE.html)**（引用于：喂养困难 / 营养咨询 https://www.baoxiulan.com/services/feeding）
- **[中华医学会儿科学分会内分泌遗传代谢学组, 等. 中国 Prader-Willi 综合征诊治专家共识（2015）[J]. 中华儿科杂志, 2015, 53(6): 419-424. DOI: 10.3760/cma.j.issn.0578-1310.2015.06.006.](https://rs.yiigle.com/cmaid/762975)**（引用于：Prader-Willi 综合征 https://www.baoxiulan.com/rare-diseases/prader-willi-syndrome；儿童罕见病 https://www.baoxiulan.com/rare-diseases；肌张力低下 https://www.baoxiulan.com/rare-diseases/sign/hypotonia；喂养困难 https://www.baoxiulan.com/rare-diseases/sign/feeding；身材矮小 https://www.baoxiulan.com/rare-diseases/sign/short-stature；染色体与印记异常 https://www.baoxiulan.com/rare-diseases/category/chromosomal；术语表 https://www.baoxiulan.com/glossary）
- **[中国康复医学会儿童康复专业委员会, 中国残疾人康复协会小儿脑性瘫痪康复专业委员会, 《中国脑性瘫痪康复指南》编委会. 中国脑性瘫痪康复指南（2015）：第一部分[J]. 中国康复医学杂志, 2015, 30(7): 747-754. DOI: 10.3969/j.issn.1001-1242.2015.07.028.](http://docs.cn-healthcare.com/sharedoc/src_files/20160810/2981632019122176.pdf)**（引用于：脑瘫患儿康复干预 https://www.baoxiulan.com/services/cerebral-palsy；运动训练 https://www.baoxiulan.com/programs/motor；小儿推拿 https://www.baoxiulan.com/programs/tuina）
- **[中华医学会儿科学分会免疫学组, 中华医学会儿科学分会儿童保健学组, 中华医学会儿科学分会消化学组, 等. 中国婴幼儿牛奶蛋白过敏诊治循证建议[J]. 中华儿科杂志, 2013, 51(3): 183-186.](https://assets.thermofisher.cn/TFS-Assets/CORP/Reference-Materials/hc-refer-evidence-based-recommendations-for-diagnosis-and-reatment-of-milk-protein-allergy-in-chinese-Infants-zh.pdf)**（引用于：喂养困难 / 营养咨询 https://www.baoxiulan.com/services/feeding；术语表 https://www.baoxiulan.com/glossary）
- **[Deal C L, Tony M, Höybye C, 等. Growth Hormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome[J]. The Journal of Clinical Endocrinology & Metabolism, 2013, 98(6): E1072-E1087. DOI: 10.1210/jc.2012-3888.](https://pmc.ncbi.nlm.nih.gov/articles/PMC3789886/)**（引用于：Prader-Willi 综合征 https://www.baoxiulan.com/rare-diseases/prader-willi-syndrome）
- **[Neul J L, Kaufmann W E, Glaze D G, 等. Rett syndrome: revised diagnostic criteria and nomenclature[J]. Annals of Neurology, 2010, 68(6): 944-950. DOI: 10.1002/ana.22124.](https://pmc.ncbi.nlm.nih.gov/articles/PMC3058521/)**（引用于：Rett 综合征 https://www.baoxiulan.com/rare-diseases/rett-syndrome；Angelman 综合征 https://www.baoxiulan.com/rare-diseases/angelman-syndrome；发育倒退 https://www.baoxiulan.com/rare-diseases/sign/regression；语言发育迟缓 https://www.baoxiulan.com/rare-diseases/sign/no-speech；手部刻板动作 https://www.baoxiulan.com/rare-diseases/sign/stereotypy）  
  RettSearch 国际联盟修订的诊断标准，国内指南据此制定中文版标准。
- **[中华医学会儿科学分会内分泌遗传代谢学组. 矮身材儿童诊治指南[J]. 中华儿科杂志, 2008, 46(6): 428-430.](https://www.sohu.com/a/314244957_100281680)**（引用于：喂养困难 / 营养咨询 https://www.baoxiulan.com/services/feeding；身材矮小 https://www.baoxiulan.com/rare-diseases/sign/short-stature；骨骼与结缔组织 https://www.baoxiulan.com/rare-diseases/category/skeletal；内分泌与生长 https://www.baoxiulan.com/rare-diseases/category/endocrine；术语表 https://www.baoxiulan.com/glossary）
- **中华医学会儿科学分会内分泌遗传代谢学组, 《中华儿科杂志》编辑委员会. 矮身材儿童诊治指南[J]. 中华儿科杂志, 2008, 46(6): 428-430.**（引用于：原发性生长激素缺乏症 https://www.baoxiulan.com/rare-diseases/growth-hormone-deficiency）

## 研究论文（178）

- **刘昆, 赵海青, 张淇, 等. 13 例 2 型神经元蜡样脂褐质沉积病患儿的临床特征分析[J]. 中华医学杂志, 2026, 106(15): 1493-1496. DOI: 10.3760/cma.j.cn112137-20260129-00328.**（引用于：神经元蜡样脂褐质沉积症 https://www.baoxiulan.com/rare-diseases/neuronal-ceroid-lipofuscinosis）  
  解放军总医院儿科医学部 2018 至 2023 年确诊并随访的 13 例。
- **Wang S Q, Wu S N, Wei H Y, 等. Clinical and genetic characteristics of and diagnostic insights on KBG syndrome in Chinese patients: a retrospective study and literature review[J]. Orphanet Journal of Rare Diseases, 2026. DOI: 10.1186/s13023-026-04305-6.**（引用于：KBG 综合征 https://www.baoxiulan.com/rare-diseases/kbg-syndrome）  
  郑州大学附属儿童医院：65 例中国患者与 519 例非中国患者的比较。
- **Liu R Y, Wu Y J, Zou C C. Genetic and clinical characteristics of chromosome 15q11-q13 duplication syndrome in Chinese children[J]. American Journal of Medical Genetics Part A, 2026, 200(7): 1498-1514. DOI: 10.1002/ajmg.a.70100.**（引用于：15q11.2-q13.1 重复综合征 https://www.baoxiulan.com/rare-diseases/dup15q-syndrome）  
  浙江大学医学院附属儿童医院：22 例中国患儿。
- **[王琳. 儿童语言障碍早期特征及干预[J]. 中国实用儿科杂志, 2025, 40(7): 545-548. DOI: 10.19538/j.ek2025070604.](https://www.zgsyz.com/zgsyek/CN/10.19538/j.ek2025070604)**（引用于：言语发音障碍 https://www.baoxiulan.com/services/speech-language）
- **[Zhang M J, Zhang S M, Zhang Q P, 等. Clinical and genetic characteristics of glucose transporter 1 deficiency syndrome in a large cohort of Chinese patients[J]. World Journal of Pediatrics, 2025, 21(3): 274-283. DOI: 10.1007/s12519-025-00884-9.](https://pmc.ncbi.nlm.nih.gov/articles/PMC11958367/)**（引用于：GLUT1 缺乏综合征 https://www.baoxiulan.com/rare-diseases/glut1-deficiency）  
  北京大学第一医院儿科：90 例中国患者。
- **[Tan Z, Wang J, Feng J, 等. Differential item functioning in neonatal behavioral neurological assessment in high-risk full-term infants in NICU based on a machine learning approach[J]. Frontiers in Neuroscience, 2025, 19: 1681152. DOI: 10.3389/fnins.2025.1681152.](https://pmc.ncbi.nlm.nih.gov/articles/PMC12669220/)**（引用于：NBNA 方法页 https://www.baoxiulan.com/nbna）
- **[Almuhanna SM, 等. Effectiveness of early intervention programs for young children with global developmental delay: a systematic review[J]. Galen Medical Journal, 2025, 14: e3906.](https://pubmed.ncbi.nlm.nih.gov/42038902/)**（引用于：全面发育落后 https://www.baoxiulan.com/services/developmental-delay）
- **[Yang T, Fang D, Zhu W, 等. Genotype-phenotype correlations in 9q34.3 microdeletion syndrome: a study of 35 Mainland Chinese patients[J]. Orphanet Journal of Rare Diseases, 2025, 21(1): 22. DOI: 10.1186/s13023-025-04076-6.](https://pmc.ncbi.nlm.nih.gov/articles/PMC12821790/)**（引用于：Kleefstra 综合征 https://www.baoxiulan.com/rare-diseases/kleefstra-syndrome）  
  上海交通大学医学院附属新华医院等：2020 至 2024 年收集的 35 例中国大陆患者。
- **Zhang Y, Shi X, Huang J, 等. Genotypic and phenotypic characteristics of pediatric X-adrenoleukodystrophy in a Chinese cohort[J]. Neuropsychiatric Disease and Treatment, 2025, 21: 677-687. DOI: 10.2147/NDT.S507632.**（引用于：X-连锁肾上腺脑白质营养不良 https://www.baoxiulan.com/rare-diseases/x-linked-adrenoleukodystrophy）  
  14 例中国男孩，全部为儿童脑型。
- **Huang H, Geng J, Long Y, 等. Improving variant interpretation and diagnosis in Koolen-de Vries syndrome through a curated genotype-phenotype repository[J]. Molecular Genetics and Genomics, 2025, 301(1): 10. DOI: 10.1007/s00438-025-02322-x.**（引用于：Koolen-de Vries 综合征 https://www.baoxiulan.com/rare-diseases/koolen-de-vries-syndrome）  
  四川大学华西医院：用基因型-表型数据库筛查国内罕见病队列。
- **[van Buuren S, Dusseldorp E, Doove L, 等. The Global Scales for Early Development (GSED): metric and measurement properties[J]. International Journal of Behavioral Development, 2025. DOI: 10.1177/01650254241294033.](https://doi.org/10.1177/01650254241294033)**（引用于：高危儿 / 早产儿早期干预 https://www.baoxiulan.com/services/high-risk-infant；全面发育落后 https://www.baoxiulan.com/services/developmental-delay；心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment；宝秀兰儿童神经发育综合评估系统 https://www.baoxiulan.com/bxl-cna；评估量表一览 https://www.baoxiulan.com/assessments）  
  世界卫生组织全球早期发展量表的条目难度参照（D-score），七国样本含中国站点；参照人群不等于中国常模
- **Zhang M J, Zhang S M, Zhang Q P, 等. The relationship between genotype and phenotype in Chinese children with glucose transporter type 1 deficiency syndrome[J]. Frontiers in Neurology, 2025, 16: 1638549. DOI: 10.3389/fneur.2025.1638549.**（引用于：GLUT1 缺乏综合征 https://www.baoxiulan.com/rare-diseases/glut1-deficiency）  
  同一团队对 93 例患儿的基因型-表型分析。
- **[Zhao T, Wu S, Shen Y, 等. Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt-Hopkins syndrome: a retrospective study[J]. Orphanet Journal of Rare Diseases, 2024, 19(1): 51. DOI: 10.1186/s13023-024-03055-7.](https://pmc.ncbi.nlm.nih.gov/articles/PMC10851572/)**（引用于：Pitt-Hopkins 综合征 https://www.baoxiulan.com/rare-diseases/pitt-hopkins-syndrome）  
  上海交通大学医学院附属上海儿童医院：47 例中国患儿。
- **[Zhong H, Zeng L, Yu X, 等. Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1[J]. Orphanet Journal of Rare Diseases, 2024, 19(1): 103. DOI: 10.1186/s13023-024-03114-z.](https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03114-z)**（引用于：肌强直性营养不良 https://www.baoxiulan.com/rare-diseases/myotonic-dystrophy）
- **[Ge C, Tian Y, Hu C, 等. Clinical impact and in vitro characterization of ADNP variants in pediatric patients[J]. Molecular Autism, 2024, 15(1): 5. DOI: 10.1186/s13229-024-00584-7.](https://pmc.ncbi.nlm.nih.gov/articles/PMC10804707/)**（引用于：ADNP 综合征 https://www.baoxiulan.com/rare-diseases/adnp-syndrome）  
  15 例中国患儿，国内首个成组报告的队列。
- **[Zhang X, Xu K, Shi J, 等. Phenotypic variability observed in a Chinese patient cohort with biallelic variants in the CLN genes[J]. Molecular Vision, 2024, 30: 175-187.](https://pmc.ncbi.nlm.nih.gov/articles/PMC11575837/)**（引用于：神经元蜡样脂褐质沉积症 https://www.baoxiulan.com/rare-diseases/neuronal-ceroid-lipofuscinosis）  
  首都医科大学附属北京同仁医院北京市眼科研究所：14 例。
- **[Luo X, Niu H, Zhou F, 等. Prenatal diagnosis, ultrasound findings and pregnancy outcome of 7q11.23 deletion and duplication syndromes: what are the fetal features?[J]. BMC Pregnancy and Childbirth, 2024, 24(1): 727. DOI: 10.1186/s12884-024-06920-2.](https://pmc.ncbi.nlm.nih.gov/articles/PMC11542197/)**（引用于：7q11.23 重复综合征 https://www.baoxiulan.com/rare-diseases/7q11-duplication）  
  深圳市龙岗区妇幼保健院 2017 至 2024 年的产前诊断病例。
- **杨圣海, 刘浩然, 李佳一, 等. Rubinstein-Taybi 综合征患儿 21 例临床及基因变异谱系特点[J]. 中华儿科杂志, 2024, 62(4): 351-356. DOI: 10.3760/cma.j.cn112140-20230822-00122.**（引用于：Rubinstein-Taybi 综合征 https://www.baoxiulan.com/rare-diseases/rubinstein-taybi-syndrome）  
  首都儿科研究所附属儿童医院 2013 年 1 月至 2022 年 7 月就诊的 21 例。
- **杨蕾, 方方, 金洪, 伍妘. SLC6A8 基因变异相关肌酸转运蛋白缺乏症的临床特征分析[J]. 中华儿科杂志, 2024, 62(12): 1202-1207. DOI: 10.3760/cma.j.cn112140-20240715-00485.**（引用于：脑肌酸缺乏综合征 https://www.baoxiulan.com/rare-diseases/creatine-deficiency）  
  首都医科大学附属北京儿童医院 2016 年 1 月至 2024 年 6 月确诊的 5 例。
- **Ma M, Li Y, Dai S, 等. A meta-analysis on the prevalence of Charcot-Marie-Tooth disease and related inherited peripheral neuropathies[J]. Journal of Neurology, 2023, 270(5): 2468-2482. DOI: 10.1007/s00415-023-11559-8.**（引用于：腓骨肌萎缩症 https://www.baoxiulan.com/rare-diseases/charcot-marie-tooth）
- **Wang J, Fang F, Ding C, 等. Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children[J]. Developmental Medicine & Child Neurology, 2023, 65(3): 416-423. DOI: 10.1111/dmcn.15390.**（引用于：遗传性痉挛性截瘫 https://www.baoxiulan.com/rare-diseases/hereditary-spastic-paraplegia）
- **[Sun W, Wang Y, Wu M, 等. Fourteen cases of cerebral creatine deficiency syndrome in children: a cohort study in China[J]. Translational Pediatrics, 2023, 12(5): 927-937. DOI: 10.21037/tp-23-164.](https://pmc.ncbi.nlm.nih.gov/articles/PMC10248938/)**（引用于：脑肌酸缺乏综合征 https://www.baoxiulan.com/rare-diseases/creatine-deficiency）  
  复旦大学附属儿科医院 2017 至 2022 年的发育迟缓儿童队列。
- **[Wu S, Zhao J, de Villiers J, 等. Prevalence, co-occurring difficulties, and risk factors of developmental language disorder: first evidence for Mandarin-speaking children in a population-based study[J]. The Lancet Regional Health – Western Pacific, 2023, 34: 100713.](https://pmc.ncbi.nlm.nih.gov/articles/PMC10240373/)**（引用于：言语发音障碍 https://www.baoxiulan.com/services/speech-language）
- **[Du X, Wang Y, Zhang W, 等. An analysis of phenotype and genotype in a large cohort of Chinese children with Angelman syndrome[J]. Genes, 2022, 13(8): 1447. DOI: 10.3390/genes13081447.](https://www.mdpi.com/2073-4425/13/8/1447)**（引用于：Angelman 综合征 https://www.baoxiulan.com/rare-diseases/angelman-syndrome）  
  复旦大学附属儿科医院 695 例，中国目前规模较大的单中心队列。
- **[Li S, Wang Y, Zhang W, 等. Epilepsy and molecular phenotype affect the neurodevelopment of pediatric Angelman syndrome patients in China[J]. Frontiers in Psychiatry, 2022, 13: 886028. DOI: 10.3389/fpsyt.2022.886028.](https://www.frontiersin.org/articles/10.3389/fpsyt.2022.886028/full)**（引用于：Angelman 综合征 https://www.baoxiulan.com/rare-diseases/angelman-syndrome）
- **[Zubler JM, Wiggins LD, Macias MM, 等. Evidence-Informed Milestones for Developmental Surveillance Tools[J]. Pediatrics, 2022, 149(3): e2021052138. DOI: 10.1542/peds.2021-052138.](https://pubmed.ncbi.nlm.nih.gov/35132439/)**（引用于：高危儿 / 早产儿早期干预 https://www.baoxiulan.com/services/high-risk-infant；全面发育落后 https://www.baoxiulan.com/services/developmental-delay；心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment；宝秀兰儿童神经发育综合评估系统 https://www.baoxiulan.com/bxl-cna；评估量表一览 https://www.baoxiulan.com/assessments；术语表 https://www.baoxiulan.com/glossary）  
  PMID 35132439。确立「多数儿童（≥75%）在该月龄前可达成」的里程碑纳入判据
- **[Li T, Lu D, Yao C, 等. Kansl1 haploinsufficiency impairs autophagosome-lysosome fusion and links autophagic dysfunction with Koolen-de Vries syndrome in mice[J]. Nature Communications, 2022, 13(1): 931. DOI: 10.1038/s41467-022-28613-0.](https://pmc.ncbi.nlm.nih.gov/articles/PMC8854428/)**（引用于：Koolen-de Vries 综合征 https://www.baoxiulan.com/rare-diseases/koolen-de-vries-syndrome）  
  国家生物医学分析中心（北京）团队的小鼠研究。
- **[Wu L, Wang J, Wang L, 等. Physical, language, neurodevelopment and phenotype-genotype correlation of Chinese patients with Mowat-Wilson syndrome[J]. Frontiers in Genetics, 2022, 13: 1016677. DOI: 10.3389/fgene.2022.1016677.](https://pmc.ncbi.nlm.nih.gov/articles/PMC9669270/)**（引用于：Mowat-Wilson 综合征 https://www.baoxiulan.com/rare-diseases/mowat-wilson-syndrome）  
  首都儿科研究所：国内最大的一组 22 例。
- **[王荻兰, 杨玉, 杨利, 等. 2 例德朗热综合征的临床表现及遗传学特征分析[J]. 南昌大学学报（医学版）, 2021, 61(6).](https://qks.ncu.edu.cn/Jwk_xbyxb/CN/abstract/abstract40707.shtml)**（引用于：Cornelia de Lange 综合征 https://www.baoxiulan.com/rare-diseases/cornelia-de-lange-syndrome）  
  中文文献里使用「德朗热综合征」这一译名的来源之一。
- **车凤玉, 贺春霞, 张李钰, 等. 一个 Smith-Lemli-Opitz 综合征家系的临床特征和基因变异分析[J]. 中华医学遗传学杂志, 2021, 38(11): 1114-1119. DOI: 10.3760/cma.j.cn511374-20201207-00852.**（引用于：Smith-Lemli-Opitz 综合征 https://www.baoxiulan.com/rare-diseases/smith-lemli-opitz-syndrome）  
  西安市儿童医院陕西省儿科疾病研究所。
- **[岳晓晶, 杜琳, 贾飞勇. 婴幼儿喂养困难的研究进展[J]. 中国儿童保健杂志, 2021, 29(7): 738-741.](http://cjchc.xjtu.edu.cn/CN/10.11852/zgetbjzz2020-0975)**（引用于：喂养困难 / 营养咨询 https://www.baoxiulan.com/services/feeding）
- **[Park J E, Lee T, Ha K, Ki C S. Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis[J]. Orphanet Journal of Rare Diseases, 2021, 16(1): 166. DOI: 10.1186/s13023-021-01789-2.](https://pmc.ncbi.nlm.nih.gov/articles/PMC8033735/)**（引用于：Smith-Lemli-Opitz 综合征 https://www.baoxiulan.com/rare-diseases/smith-lemli-opitz-syndrome）  
  用 gnomAD 中 9197 名东亚人的外显子组数据推算携带率与发病率。
- **[Lin S, He Z, Huang L, 等. Case report: low-level maternal mosaicism of a novel CREBBP variant causes recurrent Rubinstein-Taybi syndrome in two siblings of a Chinese family[J]. Frontiers in Genetics, 2021, 12: 640992. DOI: 10.3389/fgene.2021.640992.](https://pmc.ncbi.nlm.nih.gov/articles/PMC7970026/)**（引用于：Rubinstein-Taybi 综合征 https://www.baoxiulan.com/rare-diseases/rubinstein-taybi-syndrome）  
  中山大学附属第一医院报告的同胞再发家系。
- **Huang Q, Xiong H, Tao Z, 等. Clinical phenotypes and molecular findings in ten Chinese patients with Kleefstra Syndrome Type 1 due to EHMT1 defects[J]. European Journal of Medical Genetics, 2021, 64(9): 104289. DOI: 10.1016/j.ejmg.2021.104289.**（引用于：Kleefstra 综合征 https://www.baoxiulan.com/rare-diseases/kleefstra-syndrome）  
  重庆医科大学附属儿童医院报告的 10 例。
- **Zhao Y, Li Y, Bian Y, 等. Congenital myasthenic syndrome in China: genetic and myopathological characterization[J]. Annals of Clinical and Translational Neurology, 2021, 8(4): 898-907. DOI: 10.1002/acn3.51346.**（引用于：先天性肌无力综合征 https://www.baoxiulan.com/rare-diseases/congenital-myasthenic-syndrome）
- **[Zhang Y, Liu X, Gao H, 等. Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings[J]. BMC Medical Genomics, 2021, 14(1): 215. DOI: 10.1186/s12920-021-01065-z.](https://pmc.ncbi.nlm.nih.gov/articles/PMC8411507/)**（引用于：Potocki-Lupski 综合征 https://www.baoxiulan.com/rare-diseases/potocki-lupski-syndrome）  
  中国医科大学附属盛京医院：7077 例发育迟缓或智力障碍儿童的 17p11.2 拷贝数筛查。
- **[Zhou J, Li S, Gu L, 等. General movement assessment is correlated with neonatal behavior neurological assessment/cerebral magnetic resonance imaging in preterm infants[J]. Medicine, 2021, 100(37): e27262. DOI: 10.1097/MD.0000000000027262.](https://pmc.ncbi.nlm.nih.gov/articles/PMC8448035/)**（引用于：NBNA 方法页 https://www.baoxiulan.com/nbna）
- **Xie Y, Lin Z, Liu L, 等. Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China[J]. European Journal of Neurology, 2021, 28(11): 3774-3783. DOI: 10.1111/ene.15024.**（引用于：腓骨肌萎缩症 https://www.baoxiulan.com/rare-diseases/charcot-marie-tooth）  
  中国中南部 435 例队列，目前可查的较大规模中国人群基因型构成数据。
- **Cheng S S W, Luk H M, Mok M T, 等. Genotype and phenotype in 18 Chinese patients with Coffin-Siris syndrome[J]. American Journal of Medical Genetics Part A, 2021, 185(7): 2250-2261. DOI: 10.1002/ajmg.a.62187.**（引用于：Coffin-Siris 综合征 https://www.baoxiulan.com/rare-diseases/coffin-siris-syndrome）  
  香港 18 例中国患者。
- **[Zhang H, Yang L, Duan J, 等. Phenotypes in children with SYNGAP1 encephalopathy in China[J]. Frontiers in Neuroscience, 2021, 15: 761473. DOI: 10.3389/fnins.2021.761473.](https://pmc.ncbi.nlm.nih.gov/articles/PMC8678593/)**（引用于：SYNGAP1 相关智力障碍 https://www.baoxiulan.com/rare-diseases/syngap1-intellectual-disability）  
  深圳市儿童医院 7 例，合并既往报道共 13 例。
- **高超, 段佳丽, 张沛, 等. 一个 Smith-Lemli-Opitz 综合征家系的临床表型和遗传学分析[J]. 中华医学遗传学杂志, 2020, 37(11): 1272-1275. DOI: 10.3760/cma.j.cn511374-20190929-00502.**（引用于：Smith-Lemli-Opitz 综合征 https://www.baoxiulan.com/rare-diseases/smith-lemli-opitz-syndrome）  
  郑州大学附属儿童医院（河南省儿童医院）康复医学科。
- **[Gu J, Liang SZ, Shi BJ, 等. 支气管肺发育不良早产儿生后1年内神经行为发育的临床分析[J]. 中国当代儿科杂志, 2020, 22(6): 583-588. DOI: 10.7499/j.issn.1008-8830.2002145.](https://pmc.ncbi.nlm.nih.gov/articles/PMC7390207/)**（引用于：NBNA 方法页 https://www.baoxiulan.com/nbna）
- **[Tong Y R, Geng C, Guan Y Z, 等. A comprehensive analysis of 2013 dystrophinopathies in China: a report from national rare disease center[J]. Frontiers in Neurology, 2020, 11: 572006. DOI: 10.3389/fneur.2020.572006.](https://www.frontiersin.org/articles/10.3389/fneur.2020.572006/full)**（引用于：杜氏肌营养不良 https://www.baoxiulan.com/rare-diseases/duchenne-muscular-dystrophy）  
  北京协和医院国家罕见病中心 2013 例登记病例。
- **[Roche L, Sigafoos J, Trembath D. Augmentative and alternative communication intervention for people with Angelman syndrome: a systematic review[J]. Current Developmental Disorders Reports, 2020, 7(1): 28-34. DOI: 10.1007/s40474-020-00187-w.](https://link.springer.com/article/10.1007/s40474-020-00187-w)**（引用于：Angelman 综合征 https://www.baoxiulan.com/rare-diseases/angelman-syndrome；语言发育迟缓 https://www.baoxiulan.com/rare-diseases/sign/no-speech）
- **Zhang J, Wang Y, Ma D, 等. Carrier screening and prenatal diagnosis for spinal muscular atrophy in 13 069 Chinese pregnant women[J]. The Journal of Molecular Diagnostics, 2020, 22(6): 817-822. DOI: 10.1016/j.jmoldx.2020.03.001.**（引用于：脊髓性肌萎缩症 https://www.baoxiulan.com/rare-diseases/spinal-muscular-atrophy）
- **An Y, Zhang L, Liu W, 等. De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth[J]. Human Genetics, 2020, 139(4): 499-512. DOI: 10.1007/s00439-020-02115-9.**（引用于：CHD8 相关神经发育障碍 https://www.baoxiulan.com/rare-diseases/chd8-neurodevelopmental-disorder）  
  中国孤独症队列中的 4 例 CHD8 新发变异。
- **[Crisafulli S, Sultana J, Fontana A, 等. Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis[J]. Orphanet Journal of Rare Diseases, 2020, 15: 141. DOI: 10.1186/s13023-020-01430-8.](https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01430-8)**（引用于：杜氏肌营养不良 https://www.baoxiulan.com/rare-diseases/duchenne-muscular-dystrophy）
- **Ho S, Luk H M, Chung B H, 等. Mowat-Wilson syndrome in a Chinese population: a case series[J]. American Journal of Medical Genetics Part A, 2020, 182(6): 1336-1341. DOI: 10.1002/ajmg.a.61557.**（引用于：Mowat-Wilson 综合征 https://www.baoxiulan.com/rare-diseases/mowat-wilson-syndrome）  
  香港 15 例中国患者。
- **Wang X, Wang Y, Ma D, 等. Neonatal screening and genotype-phenotype correlation of 21-hydroxylase deficiency in the Chinese population[J]. Frontiers in Genetics, 2020, 11: 623125. DOI: 10.3389/fgene.2020.623125.**（引用于：21-羟化酶缺乏症 https://www.baoxiulan.com/rare-diseases/congenital-adrenal-hyperplasia）  
  南京地区 2000 至 2019 年 121 万余名新生儿筛查队列。
- **[Wu H, Li H, Bai T, 等. Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort[J]. Clinical Genetics, 2020, 97(2): 338-346. DOI: 10.1111/cge.13665.](https://pmc.ncbi.nlm.nih.gov/articles/PMC7307605/)**（引用于：CHD8 相关神经发育障碍 https://www.baoxiulan.com/rare-diseases/chd8-neurodevelopmental-disorder；PTEN 错构瘤肿瘤综合征 https://www.baoxiulan.com/rare-diseases/pten-hamartoma-tumor-syndrome）  
  中南大学医学遗传学研究中心：67 个伴头围异常的孤独症家系做外显子组测序。
- **[Zhou H, Xu X, Yan W, 等. Prevalence of autism spectrum disorder in China: a nationwide multi-center population-based study among children aged 6 to 12 years[J]. Neuroscience Bulletin, 2020, 36(9): 961-971.](https://pubmed.ncbi.nlm.nih.gov/32607739/)**（引用于：自闭症谱系障碍 ASD https://www.baoxiulan.com/services/autism）
- **[Sandbank M, Bottema-Beutel K, Crowley S, 等. Project AIM: autism intervention meta-analysis for studies of young children[J]. Psychological Bulletin, 2020, 146(1): 1-29.](https://pubmed.ncbi.nlm.nih.gov/31763860/)**（引用于：自闭症谱系障碍 ASD https://www.baoxiulan.com/services/autism；融合教育 https://www.baoxiulan.com/programs/inclusion；行为矫正训练 https://www.baoxiulan.com/programs/behavior；术语表 https://www.baoxiulan.com/glossary）
- **[Lipkin PH, Macias MM. Promoting optimal development: identifying infants and young children with developmental disorders through developmental surveillance and screening[J]. Pediatrics, 2020, 145(1): e20193449.](https://pubmed.ncbi.nlm.nih.gov/31843861/)**（引用于：心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment；术语表 https://www.baoxiulan.com/glossary）
- **[Lim J, Greenspoon D, Hunt A, 等. Rehabilitation interventions in Rett syndrome: a scoping review[J]. Developmental Medicine & Child Neurology, 2020, 62(8): 906-916. DOI: 10.1111/dmcn.14565.](https://onlinelibrary.wiley.com/doi/10.1111/dmcn.14565)**（引用于：Rett 综合征 https://www.baoxiulan.com/rare-diseases/rett-syndrome；发育倒退 https://www.baoxiulan.com/rare-diseases/sign/regression；神经发育障碍与癫痫性脑病 https://www.baoxiulan.com/rare-diseases/category/neurodevelopmental）  
  纳入 62 篇文献的范围综述：大运动、精细动作与沟通三类干预均有获益报告。
- **[S-S 语言发育迟缓检查法评估语言发育迟缓儿童发育特征的相关性研究[J]. 中国儿童保健杂志, 2020. DOI: 10.11852/zgetbjzz2019-0898.](http://cjchc.xjtu.edu.cn/CN/10.11852/zgetbjzz2019-0898)**（引用于：言语发音障碍 https://www.baoxiulan.com/services/speech-language；学习障碍 https://www.baoxiulan.com/services/learning-disability；心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment；言语认知训练 https://www.baoxiulan.com/programs/speech；评估量表一览 https://www.baoxiulan.com/assessments；训练器材与教具 https://www.baoxiulan.com/equipment）
- **[Novak I, Morgan C, Fahey M, 等. State of the evidence traffic lights 2019: systematic review of interventions for preventing and treating children with cerebral palsy[J]. Current Neurology and Neuroscience Reports, 2020, 20(2): 3.](https://pubmed.ncbi.nlm.nih.gov/32086598/)**（引用于：脑瘫患儿康复干预 https://www.baoxiulan.com/services/cerebral-palsy；运动训练 https://www.baoxiulan.com/programs/motor；作业训练 https://www.baoxiulan.com/programs/ot；训练器材与教具 https://www.baoxiulan.com/equipment；术语表 https://www.baoxiulan.com/glossary）
- **[Li C, Geng Y, Zhu X, 等. The prevalence of spinal muscular atrophy carrier in China: evidences from epidemiological surveys[J]. Medicine, 2020, 99(5): e18975. DOI: 10.1097/MD.0000000000018975.](https://journals.lww.com/md-journal/fulltext/2020/01310/the_prevalence_of_spinal_muscular_atrophy_carrier.90.aspx)**（引用于：脊髓性肌萎缩症 https://www.baoxiulan.com/rare-diseases/spinal-muscular-atrophy）
- **[Schoen SA, Lane SJ, Mailloux Z, 等. A systematic review of Ayres Sensory Integration intervention for children with autism[J]. Autism Research, 2019, 12(1): 6-19.](https://pubmed.ncbi.nlm.nih.gov/30548827/)**（引用于：感觉统合障碍 https://www.baoxiulan.com/services/sensory-integration；感觉统合训练 https://www.baoxiulan.com/programs/sensory）
- **[Roberts MY, Curtis PR, Sone BJ, 等. Association of parent training with child language development: a systematic review and meta-analysis[J]. JAMA Pediatrics, 2019, 173(7): 671-680. DOI: 10.1001/jamapediatrics.2019.1197.](https://doi.org/10.1001/jamapediatrics.2019.1197)**（引用于：言语发音障碍 https://www.baoxiulan.com/services/speech-language；言语认知训练 https://www.baoxiulan.com/programs/speech；训练器材与教具 https://www.baoxiulan.com/equipment）
- **[Yu S, Wu B, Qian Y, 等. Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly[J]. Molecular Genetics & Genomic Medicine, 2019, 7(12): e1009. DOI: 10.1002/mgg3.1009.](https://pmc.ncbi.nlm.nih.gov/articles/PMC6900364/)**（引用于：Rubinstein-Taybi 综合征 https://www.baoxiulan.com/rare-diseases/rubinstein-taybi-syndrome）  
  复旦大学附属儿科医院 2014 至 2018 年确诊的 18 例。
- **[Hoare BJ, Wallen MA, Thorley MN, 等. Constraint-induced movement therapy in children with unilateral cerebral palsy[J]. Cochrane Database of Systematic Reviews, 2019, (4): CD004149. DOI: 10.1002/14651858.CD004149.pub3.](https://doi.org/10.1002/14651858.CD004149.pub3)**（引用于：脑瘫患儿康复干预 https://www.baoxiulan.com/services/cerebral-palsy；作业训练 https://www.baoxiulan.com/programs/ot；训练器材与教具 https://www.baoxiulan.com/equipment；术语表 https://www.baoxiulan.com/glossary）
- **Li X, Yao R, Tan X, 等. Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients[J]. Clinical Genetics, 2019, 96(4): 290-299. DOI: 10.1111/cge.13588.**（引用于：Noonan 综合征 https://www.baoxiulan.com/rare-diseases/noonan-syndrome）  
  103 例中国患者的二代测序结果，是目前可查的较大规模中国人群基因构成数据。
- **[Guo C, Luo M, Wang X, 等. Reliability and validity of the Chinese version of Modified Checklist for Autism in Toddlers, Revised, with Follow-Up (M-CHAT-R/F)[J]. Journal of Autism and Developmental Disorders, 2019, 49(1). DOI: 10.1007/s10803-018-3682-y.](https://pubmed.ncbi.nlm.nih.gov/30047095/)**（引用于：自闭症谱系障碍 ASD https://www.baoxiulan.com/services/autism；感觉统合障碍 https://www.baoxiulan.com/services/sensory-integration；心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment；评估量表一览 https://www.baoxiulan.com/assessments）
- **[Wang J, Zhang Q, Chen Y, 等. Rett and Rett-like syndrome: expanding the genetic spectrum to KIF1A and GRIN1 gene[J]. Molecular Genetics & Genomic Medicine, 2019, 7(11): e968. DOI: 10.1002/mgg3.968.](https://pmc.ncbi.nlm.nih.gov/articles/PMC6825848/)**（引用于：神经元蜡样脂褐质沉积症 https://www.baoxiulan.com/rare-diseases/neuronal-ceroid-lipofuscinosis）  
  北京大学第一医院儿科：44 例 MECP2、CDKL5、FOXG1 阴性的 Rett 或 Rett 样患儿。
- **[Vlaskamp D R M, Shaw B J, Burgess R, 等. SYNGAP1 encephalopathy: a distinctive generalized developmental and epileptic encephalopathy[J]. Neurology, 2019, 92(2): e96-e107. DOI: 10.1212/WNL.0000000000006729.](https://pmc.ncbi.nlm.nih.gov/articles/PMC6340340/)**（引用于：SYNGAP1 相关智力障碍 https://www.baoxiulan.com/rare-diseases/syngap1-intellectual-disability）  
  57 例国际多中心队列，北京大学第一医院儿科参与。
- **[Yu L, Zhu X, Shek DTL, 等. Validation of the Simplified Chinese Psychoeducational Profile Third Edition in mainland China[J]. Journal of Autism and Developmental Disorders, 2019, 49(4): 1599-1612.](https://sysu.cnpereading.com/zh/publications/validation-of-the-simplified-chinese-psychoeducational-profile-th/)**（引用于：自闭症谱系障碍 ASD https://www.baoxiulan.com/services/autism；心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment；评估量表一览 https://www.baoxiulan.com/assessments）
- **李晓捷, 邱洪斌, 姜志梅, 等. 中国十二省市小儿脑性瘫痪流行病学特征[J]. 中华实用儿科临床杂志, 2018, 33(5): 378-383.**（引用于：脑瘫患儿康复干预 https://www.baoxiulan.com/services/cerebral-palsy）
- **Feng Y, Huang Y, Zhao X, 等. Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis[J]. Metabolic Brain Disease, 2018, 33(6): 2051-2057. DOI: 10.1007/s11011-018-0315-2.**（引用于：神经节苷脂贮积症 https://www.baoxiulan.com/rare-diseases/gangliosidosis）  
  11 例中国先证者：5 例婴儿型、6 例晚婴或青少年型。
- **Dong E L, Wang C, Wu S, 等. Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China[J]. Molecular Neurodegeneration, 2018, 13(1): 36. DOI: 10.1186/s13024-018-0269-1.**（引用于：遗传性痉挛性截瘫 https://www.baoxiulan.com/rare-diseases/hereditary-spastic-paraplegia）
- **[Ma P, Zhang S, Zhang H, 等. Comprehensive genetic characteristics of dystrophinopathies in China[J]. Orphanet Journal of Rare Diseases, 2018, 13: 109. DOI: 10.1186/s13023-018-0853-z.](https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0853-z)**（引用于：杜氏肌营养不良 https://www.baoxiulan.com/rare-diseases/duchenne-muscular-dystrophy）
- **Birnkrant D J, Bushby K, Bann C M, 等. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management[J]. The Lancet Neurology, 2018, 17(3): 251-267. DOI: 10.1016/S1474-4422(18)30024-3.**（引用于：杜氏肌营养不良 https://www.baoxiulan.com/rare-diseases/duchenne-muscular-dystrophy；血清肌酸激酶升高 https://www.baoxiulan.com/rare-diseases/sign/high-ck；神经肌肉病 https://www.baoxiulan.com/rare-diseases/category/neuromuscular）
- **Birnkrant D J, Bushby K, Bann C M, 等. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management[J]. The Lancet Neurology, 2018, 17(4): 347-361. DOI: 10.1016/S1474-4422(18)30025-5.**（引用于：杜氏肌营养不良 https://www.baoxiulan.com/rare-diseases/duchenne-muscular-dystrophy；神经肌肉病 https://www.baoxiulan.com/rare-diseases/category/neuromuscular）
- **Birnkrant D J, Bushby K, Bann C M, 等. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan[J]. The Lancet Neurology, 2018, 17(5): 445-455. DOI: 10.1016/S1474-4422(18)30026-7.**（引用于：杜氏肌营养不良 https://www.baoxiulan.com/rare-diseases/duchenne-muscular-dystrophy）
- **Finkel R S, Mercuri E, Meyer O H, 等. Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics[J]. Neuromuscular Disorders, 2018, 28(3): 197-207. DOI: 10.1016/j.nmd.2017.11.004.**（引用于：脊髓性肌萎缩症 https://www.baoxiulan.com/rare-diseases/spinal-muscular-atrophy）
- **[Morgan A T, van Haaften L, van Hulst K, 等. Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia[J]. European Journal of Human Genetics, 2018, 26(1): 75-84. DOI: 10.1038/s41431-017-0035-9.](https://pmc.ncbi.nlm.nih.gov/articles/PMC5839037/)**（引用于：Koolen-de Vries 综合征 https://www.baoxiulan.com/rare-diseases/koolen-de-vries-syndrome）
- **Jahngir M U, Ahmad M Q, Jahangir M. Lennox-Gastaut syndrome: in a nutshell[J]. Cureus, 2018, 10(8): e3134. DOI: 10.7759/cureus.3134.**（引用于：Lennox-Gastaut 综合征 https://www.baoxiulan.com/rare-diseases/lennox-gastaut-syndrome）  
  开放获取综述，含流行病学、发作类型、脑电图与治疗选择。
- **[American Academy of Pediatrics Section on Ophthalmology, American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, 等. Screening Examination of Premature Infants for Retinopathy of Prematurity[J]. Pediatrics, 2018, 142(6). DOI: 10.1542/peds.2018-3061.](https://pubmed.ncbi.nlm.nih.gov/30478242/)**（引用于：早产儿视网膜病变 https://www.baoxiulan.com/rare-diseases/retinopathy-of-prematurity）  
  修订 2013 年版政策声明，说明有效的筛查与治疗体系应具备的要素，包括初次与随访检查的时机。
- **[鲍秀兰, 刘维民. 新生儿行为神经测定和观察在早产儿及小婴儿脑发育评估和早期干预中的应用[J]. 中国实用儿科杂志, 2017, 32(11): 820-822. DOI: 10.19538/j.ek2017110605.](https://www.zgsyz.com/zgsyek/CN/10.19538/j.ek2017110605)**（引用于：鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan；NBNA 方法页 https://www.baoxiulan.com/nbna）
- **[Blackburn P R, Williams M, Cousin M A, 等. A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation[J]. Molecular Genetics & Genomic Medicine, 2017, 5(2): 141-146. DOI: 10.1002/mgg3.268.](https://pmc.ncbi.nlm.nih.gov/articles/PMC5370226/)**（引用于：Kleefstra 综合征 https://www.baoxiulan.com/rare-diseases/kleefstra-syndrome）
- **Fisher EL. A systematic review and meta-analysis of predictors of expressive-language outcomes among late talkers[J]. Journal of Speech, Language, and Hearing Research, 2017, 60(10): 2935-2948.**（引用于：言语发音障碍 https://www.baoxiulan.com/services/speech-language）
- **[Novak I, Morgan C, Adde L, 等. Early, accurate diagnosis and early intervention in cerebral palsy: advances in diagnosis and treatment[J]. JAMA Pediatrics, 2017, 171(9): 897-907. DOI: 10.1001/jamapediatrics.2017.1689.](https://doi.org/10.1001/jamapediatrics.2017.1689)**（引用于：高危儿 / 早产儿早期干预 https://www.baoxiulan.com/services/high-risk-infant；脑瘫患儿康复干预 https://www.baoxiulan.com/services/cerebral-palsy；心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment；0～1 岁神经运动 20 项检查 https://www.baoxiulan.com/bxl-ina；评估量表一览 https://www.baoxiulan.com/assessments）
- **[Yeung K S, Tso W W Y, Ip J J K, 等. Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism[J]. Molecular Autism, 2017, 8: 66. DOI: 10.1186/s13229-017-0182-4.](https://pmc.ncbi.nlm.nih.gov/articles/PMC5738835/)**（引用于：PTEN 错构瘤肿瘤综合征 https://www.baoxiulan.com/rare-diseases/pten-hamartoma-tumor-syndrome）  
  香港 21 例巨头伴发育迟缓或孤独症的患儿，PI3K-AKT-mTOR 通路检出率近一半。
- **[Wang T, Liu K, Li Z, 等. Prevalence of attention deficit/hyperactivity disorder among children and adolescents in China: a systematic review and meta-analysis[J]. BMC Psychiatry, 2017, 17(1): 32.](https://pubmed.ncbi.nlm.nih.gov/28103833/)**（引用于：多动症 ADHD https://www.baoxiulan.com/services/adhd）
- **[Verhaart I E C, Robertson A, Wilson I J, 等. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy: a literature review[J]. Orphanet Journal of Rare Diseases, 2017, 12(1): 124. DOI: 10.1186/s13023-017-0671-8.](https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0671-8)**（引用于：脊髓性肌萎缩症 https://www.baoxiulan.com/rare-diseases/spinal-muscular-atrophy）
- **[Frank MC, Braginsky M, Yurovsky D, Marchman VA. Wordbank: an open repository for developmental vocabulary data[J]. Journal of Child Language, 2017, 44(3): 677-694. DOI: 10.1017/S0305000916000209.](https://pubmed.ncbi.nlm.nih.gov/27189114/)**（引用于：宝秀兰儿童神经发育综合评估系统 https://www.baoxiulan.com/bxl-cna）  
  PMID 27189114。普通话（北京）MB-CDI 词汇量分位取自该库
- **[Peterson KM, Piazza CC, Volkert VM. A comparison of a modified sequential oral sensory approach to an applied behavior-analytic approach in the treatment of food selectivity in children with autism spectrum disorder[J]. Journal of Applied Behavior Analysis, 2016, 49(3): 485-511.](https://pubmed.ncbi.nlm.nih.gov/27449267/)**（引用于：喂养困难 / 营养咨询 https://www.baoxiulan.com/services/feeding；术语表 https://www.baoxiulan.com/glossary）
- **[Frohlich J, Senturk D, Saravanapandian V, 等. A quantitative electrophysiological biomarker of duplication 15q11.2-q13.1 syndrome[J]. PLoS One, 2016, 11(12): e0167179. DOI: 10.1371/journal.pone.0167179.](https://pmc.ncbi.nlm.nih.gov/articles/PMC5157977/)**（引用于：15q11.2-q13.1 重复综合征 https://www.baoxiulan.com/rare-diseases/dup15q-syndrome）
- **Liu Z, Li X, Zhang J T, 等. Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2[J]. Nature, 2016, 530(7588): 98-102. DOI: 10.1038/nature16533.**（引用于：MECP2 重复综合征 https://www.baoxiulan.com/rare-diseases/mecp2-duplication-syndrome）  
  中国科学院神经科学研究所：过表达 MeCP2 的转基因食蟹猴。
- **Yi Z, Pan H, Li L, 等. Chromosome Xq28 duplication encompassing MECP2: clinical and molecular analysis of 16 new patients from 10 families in China[J]. European Journal of Medical Genetics, 2016, 59(6-7): 347-353. DOI: 10.1016/j.ejmg.2016.05.004.**（引用于：MECP2 重复综合征 https://www.baoxiulan.com/rare-diseases/mecp2-duplication-syndrome）  
  北京大学第一医院：国内首个较大的病例系列。
- **Jordan V K, Zaveri H P, Scott D A. 1p36 deletion syndrome: an update[J]. The Application of Clinical Genetics, 2015, 8: 189-200. DOI: 10.2147/TACG.S65698.**（引用于：1p36 缺失综合征 https://www.baoxiulan.com/rare-diseases/chromosome-1p36-deletion）  
  开放获取综述。
- **[钟晨, 杨红, 等. 两种评估方法对高危儿粗大运动发育结局和脑性瘫痪预测效度的比较[J]. 中国儿童保健杂志, 2015, 23(8): 856-858. DOI: 10.11852/zgetbjzz2015-23-08-23.](http://cjchc.xjtu.edu.cn/CN/10.11852/zgetbjzz2015-23-08-23)**（引用于：高危儿 / 早产儿早期干预 https://www.baoxiulan.com/services/high-risk-infant；脑瘫患儿康复干预 https://www.baoxiulan.com/services/cerebral-palsy；心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment；评估量表一览 https://www.baoxiulan.com/assessments）
- **[Kerzner B, Milano K, MacLean WC, 等. A practical approach to classifying and managing feeding difficulties[J]. Pediatrics, 2015, 135(2): 344-353.](https://pubmed.ncbi.nlm.nih.gov/25560449/)**（引用于：喂养困难 / 营养咨询 https://www.baoxiulan.com/services/feeding；喂养困难 https://www.baoxiulan.com/rare-diseases/sign/feeding；评估量表一览 https://www.baoxiulan.com/assessments；术语表 https://www.baoxiulan.com/glossary）
- **Ji J, Lee H, Argiropoulos B, 等. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies[J]. European Journal of Human Genetics, 2015, 23(11): 1473-1481. DOI: 10.1038/ejhg.2015.71.**（引用于：DYRK1A 综合征 https://www.baoxiulan.com/rare-diseases/dyrk1a-syndrome）  
  14 例队列，本病被确立为一个可识别综合征的研究。
- **[Spittle A, Orton J, Anderson PJ, 等. Early developmental intervention programmes provided post hospital discharge to prevent motor and cognitive impairment in preterm infants[J]. Cochrane Database of Systematic Reviews, 2015, (11): CD005495. DOI: 10.1002/14651858.CD005495.pub4.](https://doi.org/10.1002/14651858.CD005495.pub4)**（引用于：高危儿 / 早产儿早期干预 https://www.baoxiulan.com/services/high-risk-infant；家庭育儿指导课程 https://www.baoxiulan.com/services/parenting；早期综合训练 https://www.baoxiulan.com/programs/early；术语表 https://www.baoxiulan.com/glossary）
- **[吴卫红, 鲍秀兰, 席冰玉, 等. 0～1 岁 52 项神经运动检查和简化 20 项相关性研究[J]. 中国儿童保健杂志, 2014, 22(3): 310-311.](http://cjchc.xjtu.edu.cn/CN/abstract/abstract1386.shtml)**（引用于：高危儿 / 早产儿早期干预 https://www.baoxiulan.com/services/high-risk-infant；脑瘫患儿康复干预 https://www.baoxiulan.com/services/cerebral-palsy；心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment；0～1 岁神经运动 20 项检查 https://www.baoxiulan.com/bxl-ina；评估量表一览 https://www.baoxiulan.com/assessments；术语表 https://www.baoxiulan.com/glossary）
- **[李晓捷, 唐久来, 马丙祥, 等. 脑性瘫痪的定义、诊断标准及临床分型[J]. 中华实用儿科临床杂志, 2014, 29(19): 1520. DOI: 10.3760/cma.j.issn.2095-428X.2014.19.024.](https://cmab.yiigle.com/uploads/guide_html/%E8%84%91%E6%80%A7%E7%98%AB%E7%97%AA%E7%9A%84%E5%AE%9A%E4%B9%89%E3%80%81%E8%AF%8A%E6%96%AD%E6%A0%87%E5%87%86%E5%8F%8A%E4%B8%B4%E5%BA%8A%E5%88%86%E5%9E%8B.html)**（引用于：脑瘫患儿康复干预 https://www.baoxiulan.com/services/cerebral-palsy；脊髓性肌萎缩症 https://www.baoxiulan.com/rare-diseases/spinal-muscular-atrophy；杜氏肌营养不良 https://www.baoxiulan.com/rare-diseases/duchenne-muscular-dystrophy；腓骨肌萎缩症 https://www.baoxiulan.com/rare-diseases/charcot-marie-tooth；肌强直性营养不良 https://www.baoxiulan.com/rare-diseases/myotonic-dystrophy；遗传性痉挛性截瘫 https://www.baoxiulan.com/rare-diseases/hereditary-spastic-paraplegia；Rett 综合征 https://www.baoxiulan.com/rare-diseases/rett-syndrome；婴儿严重肌阵挛性癫痫 https://www.baoxiulan.com/rare-diseases/dravet-syndrome；Angelman 综合征 https://www.baoxiulan.com/rare-diseases/angelman-syndrome；Silver-Russell 综合征 https://www.baoxiulan.com/rare-diseases/silver-russell-syndrome；糖原累积病Ⅱ型 https://www.baoxiulan.com/rare-diseases/pompe-disease；甲基丙二酸血症 https://www.baoxiulan.com/rare-diseases/methylmalonic-acidemia；异染性脑白质营养不良 https://www.baoxiulan.com/rare-diseases/metachromatic-leukodystrophy；软骨发育不全 https://www.baoxiulan.com/rare-diseases/achondroplasia；低磷性佝偻病 https://www.baoxiulan.com/rare-diseases/hypophosphatemic-rickets；Phelan-McDermid 综合征 https://www.baoxiulan.com/rare-diseases/phelan-mcdermid-syndrome；CHARGE 综合征 https://www.baoxiulan.com/rare-diseases/charge-syndrome；发育倒退 https://www.baoxiulan.com/rare-diseases/sign/regression；共济失调 https://www.baoxiulan.com/rare-diseases/sign/ataxia；评估量表一览 https://www.baoxiulan.com/assessments；术语表 https://www.baoxiulan.com/glossary）
- **[李静, 黄彦红, 董颖, 等. 应用爱饭达工具对儿童不良饮食行为问题干预效果评价[J]. 中国儿童保健杂志, 2014, 22(3): 333-336.](http://cjchc.xjtu.edu.cn/CN/abstract/abstract1394.shtml)**（引用于：喂养困难 / 营养咨询 https://www.baoxiulan.com/services/feeding；评估量表一览 https://www.baoxiulan.com/assessments）
- **[Helsmoortel C, Vulto-van Silfhout A T, Coe B P, 等. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP[J]. Nature Genetics, 2014, 46(4): 380-384. DOI: 10.1038/ng.2899.](https://pmc.ncbi.nlm.nih.gov/articles/PMC3990853/)**（引用于：ADNP 综合征 https://www.baoxiulan.com/rare-diseases/adnp-syndrome）  
  首次报告本病，估计 ADNP 变异至少占孤独症病例的 0.17%。
- **[Schaaf RC, Benevides T, Mailloux Z, 等. An intervention for sensory difficulties in children with autism: a randomized trial[J]. Journal of Autism and Developmental Disorders, 2014, 44(7): 1493-1506.](https://pubmed.ncbi.nlm.nih.gov/24214165/)**（引用于：感觉统合障碍 https://www.baoxiulan.com/services/sensory-integration；感觉统合训练 https://www.baoxiulan.com/programs/sensory；训练器材与教具 https://www.baoxiulan.com/equipment；术语表 https://www.baoxiulan.com/glossary）
- **[Daley D, van der Oord S, Ferrin M, 等. Behavioral interventions in attention-deficit/hyperactivity disorder: a meta-analysis of randomized controlled trials across multiple outcome domains[J]. Journal of the American Academy of Child and Adolescent Psychiatry, 2014, 53(8): 835-847.](https://pubmed.ncbi.nlm.nih.gov/25062591/)**（引用于：注意力缺陷 https://www.baoxiulan.com/services/attention；多动症 ADHD https://www.baoxiulan.com/services/adhd；家庭育儿指导课程 https://www.baoxiulan.com/services/parenting；融合教育 https://www.baoxiulan.com/programs/inclusion；术语表 https://www.baoxiulan.com/glossary）
- **[Moeschler JB, Shevell M. Comprehensive evaluation of the child with intellectual disability or global developmental delays[J]. Pediatrics, 2014, 134(3): e903-e918.](https://pubmed.ncbi.nlm.nih.gov/25157020/)**（引用于：全面发育落后 https://www.baoxiulan.com/services/developmental-delay；肌张力低下 https://www.baoxiulan.com/rare-diseases/sign/hypotonia；发育倒退 https://www.baoxiulan.com/rare-diseases/sign/regression；粗大运动发育落后 https://www.baoxiulan.com/rare-diseases/sign/late-walking；全面发育迟缓 https://www.baoxiulan.com/rare-diseases/sign/global-delay；癫痫发作 https://www.baoxiulan.com/rare-diseases/sign/seizure；头围增长异常 https://www.baoxiulan.com/rare-diseases/sign/head-size；咖啡牛奶斑、色素脱失斑与鲜红斑痣 https://www.baoxiulan.com/rare-diseases/sign/skin-marks；急性代谢危象 https://www.baoxiulan.com/rare-diseases/sign/metabolic-crisis；遗传代谢病 https://www.baoxiulan.com/rare-diseases/category/metabolic）
- **Deng D, Xu C, Sun P, 等. Crystal structure of the human glucose transporter GLUT1[J]. Nature, 2014, 510(7503): 121-125. DOI: 10.1038/nature13306.**（引用于：GLUT1 缺乏综合征 https://www.baoxiulan.com/rare-diseases/glut1-deficiency）  
  清华大学团队解析的人 GLUT1 晶体结构。
- **[Bernier R, Golzio C, Xiong B, 等. Disruptive CHD8 mutations define a subtype of autism early in development[J]. Cell, 2014, 158(2): 263-276. DOI: 10.1016/j.cell.2014.06.017.](https://pmc.ncbi.nlm.nih.gov/articles/PMC4136921/)**（引用于：CHD8 相关神经发育障碍 https://www.baoxiulan.com/rare-diseases/chd8-neurodevelopmental-disorder）
- **[周晋波, 郭兰婷, 陈颖. 中文版注意缺陷多动障碍 SNAP-Ⅳ 评定量表-父母版的信效度[J]. 中国心理卫生杂志, 2013, 27(6): 424-428.](https://med.wanfangdata.com.cn/Paper/Detail/PeriodicalPaper_zgxlwszz201306005)**（引用于：感觉统合障碍 https://www.baoxiulan.com/services/sensory-integration；注意力缺陷 https://www.baoxiulan.com/services/attention；多动症 ADHD https://www.baoxiulan.com/services/adhd；学习障碍 https://www.baoxiulan.com/services/learning-disability；评估量表一览 https://www.baoxiulan.com/assessments）
- **Ye J, Yang Y, Yu W, 等. Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study[J]. Journal of Inherited Metabolic Disease, 2013, 36(5): 893-901. DOI: 10.1007/s10545-012-9550-6.**（引用于：四氢生物蝶呤缺乏症 https://www.baoxiulan.com/rare-diseases/tetrahydrobiopterin-deficiency）  
  上海交通大学医学院附属新华医院等多中心：1985 至 2010 年出生的 256 例。
- **[Oono IP, Honey EJ, McConachie H. Parent-mediated early intervention for young children with autism spectrum disorders (ASD)[J]. Cochrane Database of Systematic Reviews, 2013, (4): CD009774.](https://pubmed.ncbi.nlm.nih.gov/23633377/)**（引用于：自闭症谱系障碍 ASD https://www.baoxiulan.com/services/autism；家庭育儿指导课程 https://www.baoxiulan.com/services/parenting；行为矫正训练 https://www.baoxiulan.com/programs/behavior；术语表 https://www.baoxiulan.com/glossary）
- **[Sun Z, Zou L, Zhang J, 等. Prevalence and associated risk factors of dyslexic children in a middle-sized city of China: a cross-sectional study[J]. PLoS One, 2013, 8(2): e56688.](https://pubmed.ncbi.nlm.nih.gov/23457604/)**（引用于：学习障碍 https://www.baoxiulan.com/services/learning-disability；术语表 https://www.baoxiulan.com/glossary）
- **[Virues-Ortega J, Julio FM, Pastor-Barriuso R. The TEACCH program for children and adults with autism: a meta-analysis of intervention studies[J]. Clinical Psychology Review, 2013, 33(8): 940-953.](https://pubmed.ncbi.nlm.nih.gov/23988454/)**（引用于：自闭症谱系障碍 ASD https://www.baoxiulan.com/services/autism；训练器材与教具 https://www.baoxiulan.com/equipment；术语表 https://www.baoxiulan.com/glossary）
- **[American Academy of Pediatrics Section on Complementary and Integrative Medicine, Council on Children with Disabilities. Sensory integration therapies for children with developmental and behavioral disorders[J]. Pediatrics, 2012, 129(6): 1186-1189.](https://pubmed.ncbi.nlm.nih.gov/22641765/)**（引用于：感觉统合障碍 https://www.baoxiulan.com/services/sensory-integration；感觉统合训练 https://www.baoxiulan.com/programs/sensory；作业训练 https://www.baoxiulan.com/programs/ot；术语表 https://www.baoxiulan.com/glossary）
- **[Briskin S, LaBotz M; Council on Sports Medicine and Fitness. Trampoline safety in childhood and adolescence[J]. Pediatrics, 2012, 130(4): 774-779. DOI: 10.1542/peds.2012-2082.](https://pubmed.ncbi.nlm.nih.gov/23008455/)**（引用于：训练器材与教具 https://www.baoxiulan.com/equipment）  
  PMID 23008455。美国儿科学会政策声明，不建议家庭娱乐性使用蹦床；多数损伤发生在同时多人使用时
- **[徐姗姗, 等. 贝莉婴幼儿发育量表-第三版评价上海市婴幼儿发育水平的应用初探[J]. 中国儿童保健杂志, 2011, 19(1): 30-32.](http://cjchc.xjtu.edu.cn/CN/abstract/abstract917.shtml)**（引用于：全面发育落后 https://www.baoxiulan.com/services/developmental-delay；心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment；评估量表一览 https://www.baoxiulan.com/assessments）
- **[Parham LD, Roley SS, May-Benson TA, 等. Development of a fidelity measure for research on the effectiveness of the Ayres Sensory Integration intervention[J]. American Journal of Occupational Therapy, 2011, 65(2): 133-142.](https://pubmed.ncbi.nlm.nih.gov/21476360/)**（引用于：感觉统合障碍 https://www.baoxiulan.com/services/sensory-integration；感觉统合训练 https://www.baoxiulan.com/programs/sensory；训练器材与教具 https://www.baoxiulan.com/equipment；术语表 https://www.baoxiulan.com/glossary）
- **[McCandless S E, Committee on Genetics, American Academy of Pediatrics. Health supervision for children with Prader-Willi syndrome[J]. Pediatrics, 2011, 127(1): 195-204. DOI: 10.1542/peds.2010-2820.](https://publications.aap.org/pediatrics/article/127/1/195/65191)**（引用于：Prader-Willi 综合征 https://www.baoxiulan.com/rare-diseases/prader-willi-syndrome；染色体与印记异常 https://www.baoxiulan.com/rare-diseases/category/chromosomal）
- **[Miller J L, Lynn C H, Driscoll D C, 等. Nutritional phases in Prader-Willi syndrome[J]. American Journal of Medical Genetics Part A, 2011, 155A(5): 1040-1049. DOI: 10.1002/ajmg.a.33951.](https://pmc.ncbi.nlm.nih.gov/articles/PMC3800803/)**（引用于：Prader-Willi 综合征 https://www.baoxiulan.com/rare-diseases/prader-willi-syndrome；喂养困难 https://www.baoxiulan.com/rare-diseases/sign/feeding）  
  把 Prader-Willi 综合征的进食变化分成 0 至 4 期七个阶段。
- **[Roberts MY, Kaiser AP. The effectiveness of parent-implemented language interventions: a meta-analysis[J]. American Journal of Speech-Language Pathology, 2011, 20(3): 180-199.](https://pubmed.ncbi.nlm.nih.gov/21478280/)**（引用于：言语发音障碍 https://www.baoxiulan.com/services/speech-language；家庭育儿指导课程 https://www.baoxiulan.com/services/parenting；言语认知训练 https://www.baoxiulan.com/programs/speech；训练器材与教具 https://www.baoxiulan.com/equipment）
- **鲍秀兰. 0～1 岁神经运动 20 项检查（52 项简化法）[J]. 中国儿童康复, 2010, 2(2): 9-10.**（引用于：高危儿 / 早产儿早期干预 https://www.baoxiulan.com/services/high-risk-infant；脑瘫患儿康复干预 https://www.baoxiulan.com/services/cerebral-palsy；心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment；0～1 岁神经运动 20 项检查 https://www.baoxiulan.com/bxl-ina；评估量表一览 https://www.baoxiulan.com/assessments；术语表 https://www.baoxiulan.com/glossary）
- **[卞晓燕, 姚国英, Squires J, 等. 年龄与发育进程问卷上海市儿童常模及心理测量学特性研究[J]. 中华儿科杂志, 2010, 48(7): 492-496.](https://pubmed.ncbi.nlm.nih.gov/21055084/)**（引用于：心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment；家庭育儿指导课程 https://www.baoxiulan.com/services/parenting；评估量表一览 https://www.baoxiulan.com/assessments；术语表 https://www.baoxiulan.com/glossary）
- **[Dawson G, Rogers S, Munson J, 等. Randomized, controlled trial of an intervention for toddlers with autism: the Early Start Denver Model[J]. Pediatrics, 2010, 125(1): e17-e23. DOI: 10.1542/peds.2009-0958.](https://doi.org/10.1542/peds.2009-0958)**（引用于：自闭症谱系障碍 ASD https://www.baoxiulan.com/services/autism；行为矫正训练 https://www.baoxiulan.com/programs/behavior；术语表 https://www.baoxiulan.com/glossary）
- **韩彤立, 邹丽萍, 郑华, 等. 粗大运动功能分类系统在痉挛型脑性瘫痪儿童中的信度和效度[J]. 临床儿科杂志, 2009, 27(3): 264-266.**（引用于：脑瘫患儿康复干预 https://www.baoxiulan.com/services/cerebral-palsy；评估量表一览 https://www.baoxiulan.com/assessments；训练器材与教具 https://www.baoxiulan.com/equipment；术语表 https://www.baoxiulan.com/glossary）
- **张厚粲. 韦氏儿童智力量表第四版（WISC-Ⅳ）中文版的修订[J]. 心理科学, 2009, 32(5): 1177-1179.**（引用于：注意力缺陷 https://www.baoxiulan.com/services/attention；多动症 ADHD https://www.baoxiulan.com/services/adhd；学习障碍 https://www.baoxiulan.com/services/learning-disability；评估量表一览 https://www.baoxiulan.com/assessments）
- **[McCauley RJ, Strand E, Lof GL, 等. Evidence-based systematic review: effects of nonspeech oral motor exercises on speech[J]. American Journal of Speech-Language Pathology, 2009, 18(4): 343-360.](https://pubmed.ncbi.nlm.nih.gov/19638484/)**（引用于：言语发音障碍 https://www.baoxiulan.com/services/speech-language；言语认知训练 https://www.baoxiulan.com/programs/speech；训练器材与教具 https://www.baoxiulan.com/equipment）
- **Hamdan F F, Gauthier J, Spiegelman D, 等. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation[J]. New England Journal of Medicine, 2009, 360(6): 599-605. DOI: 10.1056/NEJMoa0805392.**（引用于：SYNGAP1 相关智力障碍 https://www.baoxiulan.com/rare-diseases/syngap1-intellectual-disability）  
  首次报告 SYNGAP1 的新发截短变异。
- **[Schlosser RW, Wendt O. Effects of augmentative and alternative communication intervention on speech production in children with autism: a systematic review[J]. American Journal of Speech-Language Pathology, 2008, 17(3): 212-230. DOI: 10.1044/1058-0360(2008/021).](https://pubs.asha.org/doi/abs/10.1044/1058-0360%282008%2F021%29)**（引用于：训练器材与教具 https://www.baoxiulan.com/equipment）  
  系统评价：替代沟通干预不妨碍口语产出，部分研究中口语有所增加
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- **[Wong V C N, Li S Y. Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic and atypical forms[J]. Journal of Child Neurology, 2007, 22(12): 1397-1400. DOI: 10.1177/0883073807307091.](https://journals.sagepub.com/doi/10.1177/0883073807307091)**（引用于：Rett 综合征 https://www.baoxiulan.com/rare-diseases/rett-syndrome）  
  香港地区数据，是目前可查的中国人群患病率来源。
- **吴汉荣, 宋然然, 姚彬. 儿童汉语阅读障碍量表的初步编制[J]. 中国学校卫生, 2006, 27(3): 189-190.**（引用于：学习障碍 https://www.baoxiulan.com/services/learning-disability；评估量表一览 https://www.baoxiulan.com/assessments）
- **Koolen D A, Vissers L E, Pfundt R, 等. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism[J]. Nature Genetics, 2006, 38(9): 999-1001. DOI: 10.1038/ng1853.**（引用于：Koolen-de Vries 综合征 https://www.baoxiulan.com/rare-diseases/koolen-de-vries-syndrome）
- **[Williams C A, Beaudet A L, Clayton-Smith J, 等. Angelman syndrome 2005: updated consensus for diagnostic criteria[J]. American Journal of Medical Genetics Part A, 2006, 140(5): 413-418. DOI: 10.1002/ajmg.a.31074.](https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.31074)**（引用于：Angelman 综合征 https://www.baoxiulan.com/rare-diseases/angelman-syndrome；儿童罕见病 https://www.baoxiulan.com/rare-diseases；语言发育迟缓 https://www.baoxiulan.com/rare-diseases/sign/no-speech；癫痫发作 https://www.baoxiulan.com/rare-diseases/sign/seizure；头围增长异常 https://www.baoxiulan.com/rare-diseases/sign/head-size；共济失调 https://www.baoxiulan.com/rare-diseases/sign/ataxia）
- **[史惟, 等. GMFM 66 在 0-3 岁脑性瘫痪患儿粗大运动评估中的信度和效度研究[J]. 中华流行病学杂志, 2006, 27(6).](http://chinaepi.icdc.cn/zhlxbx/ch/reader/view_abstract.aspx?file_no=20060618&flag=1)**（引用于：脑瘫患儿康复干预 https://www.baoxiulan.com/services/cerebral-palsy；评估量表一览 https://www.baoxiulan.com/assessments）
- **[Kleefstra T, Brunner H G, Amiel J, 等. Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome[J]. American Journal of Human Genetics, 2006, 79(2): 370-377. DOI: 10.1086/505693.](https://pmc.ncbi.nlm.nih.gov/articles/PMC1559478/)**（引用于：Kleefstra 综合征 https://www.baoxiulan.com/rare-diseases/kleefstra-syndrome）
- **Haltia M. The neuronal ceroid-lipofuscinoses: from past to present[J]. Biochimica et Biophysica Acta, 2006, 1762(10): 850-856. DOI: 10.1016/j.bbadis.2006.06.010.**（引用于：神经元蜡样脂褐质沉积症 https://www.baoxiulan.com/rare-diseases/neuronal-ceroid-lipofuscinosis）
- **[WHO Multicentre Growth Reference Study Group. WHO Motor Development Study: windows of achievement for six gross motor development milestones[J]. Acta Paediatrica Supplement, 2006, 450: 86-95. DOI: 10.1111/j.1651-2227.2006.tb02379.x.](https://pubmed.ncbi.nlm.nih.gov/16817681/)**（引用于：宝秀兰儿童神经发育综合评估系统 https://www.baoxiulan.com/bxl-cna；评估量表一览 https://www.baoxiulan.com/assessments）  
  PMID 16817681。五国 816 名儿童纵向随访，六项大运动里程碑的达成年龄百分位
- **[鲍秀兰, 早期干预降低早产儿脑性瘫痪发生率研究协作组. 降低早产儿脑性瘫痪发生率的临床研究[J]. 中华儿科杂志, 2005, 43(4): 244-247.](https://pubmed.ncbi.nlm.nih.gov/15924710/)**（引用于：高危儿 / 早产儿早期干预 https://www.baoxiulan.com/services/high-risk-infant；脑瘫患儿康复干预 https://www.baoxiulan.com/services/cerebral-palsy；早期综合训练 https://www.baoxiulan.com/programs/early；机构沿革 https://www.baoxiulan.com/about；鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan）  
  PMID 15924710
- **范娟, 杜亚松, 王立伟. Conners 父母症状问卷的中国城市常模和信度研究[J]. 上海精神医学, 2005, 17(6): 321-323.**（引用于：注意力缺陷 https://www.baoxiulan.com/services/attention；多动症 ADHD https://www.baoxiulan.com/services/adhd；学习障碍 https://www.baoxiulan.com/services/learning-disability；评估量表一览 https://www.baoxiulan.com/assessments；术语表 https://www.baoxiulan.com/glossary）
- **[Kleefstra T, Smidt M, Banning M J, 等. Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome[J]. Journal of Medical Genetics, 2005, 42(4): 299-306. DOI: 10.1136/jmg.2004.028464.](https://pmc.ncbi.nlm.nih.gov/articles/PMC1736026/)**（引用于：Kleefstra 综合征 https://www.baoxiulan.com/rare-diseases/kleefstra-syndrome）  
  一例新发平衡易位打断 EHMT1 的女孩，首次把这组表现与 EHMT1 联系起来。
- **[Van Esch H, Bauters M, Ignatius J, 等. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males[J]. American Journal of Human Genetics, 2005, 77(3): 442-453. DOI: 10.1086/444549.](https://pmc.ncbi.nlm.nih.gov/articles/PMC1226209/)**（引用于：MECP2 重复综合征 https://www.baoxiulan.com/rare-diseases/mecp2-duplication-syndrome）
- **[Roelfsema J H, White S J, Ariyürek Y, 等. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease[J]. American Journal of Human Genetics, 2005, 76(4): 572-580. DOI: 10.1086/429130.](https://pmc.ncbi.nlm.nih.gov/articles/PMC1199295/)**（引用于：Rubinstein-Taybi 综合征 https://www.baoxiulan.com/rare-diseases/rubinstein-taybi-syndrome）
- **[Somerville M J, Mervis C B, Young E J, 等. Severe expressive-language delay related to duplication of the Williams-Beuren locus[J]. New England Journal of Medicine, 2005, 353(16): 1694-1701. DOI: 10.1056/NEJMoa051962.](https://pmc.ncbi.nlm.nih.gov/articles/PMC2893213/)**（引用于：7q11.23 重复综合征 https://www.baoxiulan.com/rare-diseases/7q11-duplication）  
  首次报告威廉姆斯综合征缺失区的镜像重复。
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- **鲍秀兰. 新生儿行为能力和测查方法[J]. 实用诊断与治疗杂志, 2003, 17(6): 441-443. DOI: 10.3969/j.issn.1674-3474.2003.06.001.**（引用于：NBNA 方法页 https://www.baoxiulan.com/nbna）
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- **[Rosenbaum PL, Walter SD, Hanna SE, 等. Prognosis for gross motor function in cerebral palsy: creation of motor development curves[J]. JAMA, 2002, 288(11): 1357-1363.](https://pubmed.ncbi.nlm.nih.gov/12234235/)**（引用于：脑瘫患儿康复干预 https://www.baoxiulan.com/services/cerebral-palsy；评估量表一览 https://www.baoxiulan.com/assessments；术语表 https://www.baoxiulan.com/glossary）
- **[中文早期语言与沟通发展量表——普通话版的再标准化[J]. 中国儿童保健杂志, 2001, 9(5).](https://www.cnki.com.cn/Article/CJFD2001-ERTO200105002.htm)**（引用于：言语发音障碍 https://www.baoxiulan.com/services/speech-language；心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment；评估量表一览 https://www.baoxiulan.com/assessments）
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- **[Salomons G S, van Dooren S J, Verhoeven N M, 等. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome[J]. American Journal of Human Genetics, 2001, 68(6): 1497-1500. DOI: 10.1086/320595.](https://pmc.ncbi.nlm.nih.gov/articles/PMC1226136/)**（引用于：脑肌酸缺乏综合征 https://www.baoxiulan.com/rare-diseases/creatine-deficiency）
- **Yu H, Tint G S, Salen G, Patel S B. Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi[J]. American Journal of Medical Genetics, 2000, 90(4): 347-350. DOI: 10.1002/(sici)1096-8628(20000214)90:4<347::aid-ajmg16>3.0.co;2-7.**（引用于：Smith-Lemli-Opitz 综合征 https://www.baoxiulan.com/rare-diseases/smith-lemli-opitz-syndrome）
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- **[Mowat D R, Croaker G D, Cass D T, 等. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23[J]. Journal of Medical Genetics, 1998, 35(8): 617-623. DOI: 10.1136/jmg.35.8.617.](https://pmc.ncbi.nlm.nih.gov/articles/PMC1051383/)**（引用于：Mowat-Wilson 综合征 https://www.baoxiulan.com/rare-diseases/mowat-wilson-syndrome）
- **[Fitzky B U, Witsch-Baumgartner M, Erdel M, 等. Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome[J]. Proceedings of the National Academy of Sciences of the United States of America, 1998, 95(14): 8181-8186. DOI: 10.1073/pnas.95.14.8181.](https://pmc.ncbi.nlm.nih.gov/articles/PMC20950/)**（引用于：Smith-Lemli-Opitz 综合征 https://www.baoxiulan.com/rare-diseases/smith-lemli-opitz-syndrome）
- **[Wassif C A, Maslen C, Kachilele-Linjewile S, 等. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome[J]. American Journal of Human Genetics, 1998, 63(1): 55-62. DOI: 10.1086/301936.](https://pmc.ncbi.nlm.nih.gov/articles/PMC1377256/)**（引用于：Smith-Lemli-Opitz 综合征 https://www.baoxiulan.com/rare-diseases/smith-lemli-opitz-syndrome）
- **Sleat D E, Donnelly R J, Lackland H, 等. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis[J]. Science, 1997, 277(5333): 1802-1805. DOI: 10.1126/science.277.5333.1802.**（引用于：神经元蜡样脂褐质沉积症 https://www.baoxiulan.com/rare-diseases/neuronal-ceroid-lipofuscinosis）
- **[Bao X, Sun S, Yu R, 等. Early intervention improves intellectual development in asphyxiated newborn infants[J]. Chinese Medical Journal, 1997, 110(11): 875-878.](https://pubmed.ncbi.nlm.nih.gov/9772422/)**（引用于：鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan）  
  PMID 9772422
- **Petrij F, Giles R H, Dauwerse H G, 等. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP[J]. Nature, 1995, 376(6538): 348-351. DOI: 10.1038/376348a0.**（引用于：Rubinstein-Taybi 综合征 https://www.baoxiulan.com/rare-diseases/rubinstein-taybi-syndrome）
- **任桂英, 王玉凤, 顾伯美, 等. 儿童感觉统合评定量表的测试报告[J]. 中国心理卫生杂志, 1994, 8(4): 145-147.**（引用于：感觉统合障碍 https://www.baoxiulan.com/services/sensory-integration；感觉统合训练 https://www.baoxiulan.com/programs/sensory；评估量表一览 https://www.baoxiulan.com/assessments）
- **Stöckler S, Holzbach U, Hanefeld F, 等. Creatine deficiency in the brain: a new, treatable inborn error of metabolism[J]. Pediatric Research, 1994, 36(3): 409-413. DOI: 10.1203/00006450-199409000-00023.**（引用于：脑肌酸缺乏综合征 https://www.baoxiulan.com/rare-diseases/creatine-deficiency）  
  第一种肌酸代谢缺陷的报告，后来明确为 GAMT 缺乏症。
- **Tint G S, Irons M, Elias E R, 等. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome[J]. New England Journal of Medicine, 1994, 330(2): 107-113. DOI: 10.1056/NEJM199401133300205.**（引用于：Smith-Lemli-Opitz 综合征 https://www.baoxiulan.com/rare-diseases/smith-lemli-opitz-syndrome）
- **[Bao XL, Yu RJ, Li ZS. 20-item neonatal behavioral neurological assessment used in predicting prognosis of asphyxiated newborn[J]. Chinese Medical Journal, 1993, 106(3): 211-215.](https://pubmed.ncbi.nlm.nih.gov/8325146/)**（引用于：鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan；NBNA 方法页 https://www.baoxiulan.com/nbna）  
  PMID 8325146
- **杨晓玲, 黄悦勤, 贾美香, 等. 孤独症行为量表试测报告[J]. 中国心理卫生杂志, 1993, 7(6): 279-280.**（引用于：自闭症谱系障碍 ASD https://www.baoxiulan.com/services/autism；评估量表一览 https://www.baoxiulan.com/assessments）
- **[Holm V A, Cassidy S B, Butler M G, 等. Prader-Willi syndrome: consensus diagnostic criteria[J]. Pediatrics, 1993, 91(2): 398-402. DOI: 10.1542/peds.91.2.398.](https://pmc.ncbi.nlm.nih.gov/articles/PMC2952397/)**（引用于：Prader-Willi 综合征 https://www.baoxiulan.com/rare-diseases/prader-willi-syndrome）
- **Mosser J, Douar A M, Sarde C O, 等. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters[J]. Nature, 1993, 361(6414): 726-730. DOI: 10.1038/361726a0.**（引用于：X-连锁肾上腺脑白质营养不良 https://www.baoxiulan.com/rare-diseases/x-linked-adrenoleukodystrophy）  
  用定位克隆找到致病基因，即今天的 ABCD1。
- **[新生儿行为神经研究协作组, 鲍秀兰, 虞人杰, 等. 新生儿20项行为神经测定在窒息儿的临床应用[J]. 中国生育健康杂志, 1992, (3): 22-25.](https://ccj.pku.edu.cn/Article/info?aid=289465870)**（引用于：NBNA 方法页 https://www.baoxiulan.com/nbna）
- **[Bao XL, Shi YF, Du YC, 等. Prevalence of growth hormone deficiency of children in Beijing[J]. Chinese Medical Journal, 1992, 105(5): 401-405.](https://pubmed.ncbi.nlm.nih.gov/1499371/)**（引用于：鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan）  
  PMID 1499371
- **Bao X L, Shi Y F, Du Y C, 等. Prevalence of growth hormone deficiency of children in Beijing[J]. Chinese Medical Journal, 1992, 105(5): 401-405.**（引用于：原发性生长激素缺乏症 https://www.baoxiulan.com/rare-diseases/growth-hormone-deficiency）  
  北京 10 万余名 6 至 15 岁中小学生筛查，是目前可查的中国儿童生长激素缺乏症患病率数据。
- **De Vivo D C, Trifiletti R R, Jacobson R I, 等. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay[J]. New England Journal of Medicine, 1991, 325(10): 703-709. DOI: 10.1056/NEJM199109053251006.**（引用于：GLUT1 缺乏综合征 https://www.baoxiulan.com/rare-diseases/glut1-deficiency）  
  本病的首次报告。
- **[Bao XL, Yu RJ, Li ZS, 等. Twenty-item behavioral neurological assessment for normal newborns in 12 cities of China[J]. Chinese Medical Journal, 1991, 104(9): 742-746.](https://pubmed.ncbi.nlm.nih.gov/1935355/)**（引用于：高危儿 / 早产儿早期干预 https://www.baoxiulan.com/services/high-risk-infant；心理行为发育评估 https://www.baoxiulan.com/services/developmental-assessment；鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan；NBNA 方法页 https://www.baoxiulan.com/nbna；0～1 岁神经运动 20 项检查 https://www.baoxiulan.com/bxl-ina；评估量表一览 https://www.baoxiulan.com/assessments；术语表 https://www.baoxiulan.com/glossary）  
  PMID 1935355
- **[全国新生儿行为神经科研协作组, 全国新生儿生长发育科研协作组. 中国12城市正常新生儿20项行为神经评价[J]. 中华儿科杂志, 1990, 28(3): 160-162.](https://rs.yiigle.com/cmaid/28608)**（引用于：鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan；NBNA 方法页 https://www.baoxiulan.com/nbna）
- **[Shi YF, Liu R, Bao XL, 等. Clinical trial with somatonorm in idiopathic growth hormone deficiency in children[J]. Chinese Medical Journal, 1990, 103(6): 470-477.](https://pubmed.ncbi.nlm.nih.gov/2119959/)**（引用于：鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan）  
  PMID 2119959
- **[中华预防医学会妇女保健学会、儿童保健学会成立[J]. 中国妇幼保健, 1989, (6).](https://mall.cnki.net/magazine/Article/ZFYB198906025.htm)**（引用于：鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan）
- **Pitt D, Hopkins I. A syndrome of mental retardation, wide mouth and intermittent overbreathing[J]. Australian Paediatric Journal, 1978, 14(3): 182-184. DOI: 10.1111/jpc.1978.14.3.182.**（引用于：Pitt-Hopkins 综合征 https://www.baoxiulan.com/rare-diseases/pitt-hopkins-syndrome）  
  本病的首次报告，病名由此而来。
- **Herrmann J, Pallister P D, Tiddy W, 等. The KBG syndrome — a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies[J]. Birth Defects Original Article Series, 1975, 11(5): 7-18.**（引用于：KBG 综合征 https://www.baoxiulan.com/rare-diseases/kbg-syndrome）  
  本病的首次报告。
- **Coffin G S, Siris E. Mental retardation with absent fifth fingernail and terminal phalanx[J]. American Journal of Diseases of Children, 1970, 119(5): 433-439. DOI: 10.1001/archpedi.1970.02100050435009.**（引用于：Coffin-Siris 综合征 https://www.baoxiulan.com/rare-diseases/coffin-siris-syndrome）  
  本病的首次报告，病名由此而来。
- **[Angelman H. 'Puppet' children: a report on three cases[J]. Developmental Medicine & Child Neurology, 1965, 7(6): 681-688. DOI: 10.1111/j.1469-8749.1965.tb07844.x.](https://onlinelibrary.wiley.com/doi/10.1111/j.1469-8749.1965.tb07844.x)**（引用于：Angelman 综合征 https://www.baoxiulan.com/rare-diseases/angelman-syndrome）  
  首次报告三例，本病由此得名。
- **Smith D W, Lemli L, Opitz J M. A newly recognized syndrome of multiple congenital anomalies[J]. Journal of Pediatrics, 1964, 64: 210-217. DOI: 10.1016/s0022-3476(64)80264-x.**（引用于：Smith-Lemli-Opitz 综合征 https://www.baoxiulan.com/rare-diseases/smith-lemli-opitz-syndrome）  
  本病的首次报告，病名由此而来。
- **Rubinstein J H, Taybi H. Broad thumbs and toes and facial abnormalities: a possible mental retardation syndrome[J]. American Journal of Diseases of Children, 1963, 105: 588-608. DOI: 10.1001/archpedi.1963.02080040590010.**（引用于：Rubinstein-Taybi 综合征 https://www.baoxiulan.com/rare-diseases/rubinstein-taybi-syndrome）  
  本病的首次系统报告，病名由此而来。
- **[Glaser R. Instructional technology and the measurement of learning outcomes: Some questions[J]. American Psychologist, 1963, 18(8): 519-521. DOI: 10.1037/h0049294.](https://doi.org/10.1037/h0049294)**（引用于：宝秀兰儿童神经发育综合评估系统 https://www.baoxiulan.com/bxl-cna；术语表 https://www.baoxiulan.com/glossary）  
  校标参照（criterion-referenced）与常模参照（norm-referenced）之分的出处

## 图书（10）

- **[World Health Organization. Improving early childhood development: WHO guideline[M]. World Health Organization, 2020.](https://www.who.int/publications/i/item/97892400020986)**（引用于：家庭育儿指导课程 https://www.baoxiulan.com/services/parenting）
- **[鲍秀兰. 0–3 岁儿童最佳的人生开端（正常儿卷、高危儿卷）[M]. 中国妇女出版社, 2019.](https://book.douban.com/subject/30596133/)**（引用于：家庭育儿指导课程 https://www.baoxiulan.com/services/parenting；0～1 岁神经运动 20 项检查 https://www.baoxiulan.com/bxl-ina）
- **鲍秀兰 主编. 0～1 岁神经运动 20 项检查（52 项简化法）[M]. 宝秀兰儿童早期发展优化中心, 2019.**（引用于：0～1 岁神经运动 20 项检查 https://www.baoxiulan.com/bxl-ina；评估量表一览 https://www.baoxiulan.com/assessments）  
  机构内部印本
- **[World Health Organization, UNICEF, World Bank Group. Nurturing care for early childhood development: a framework for helping children survive and thrive to transform health and human potential[M]. World Health Organization, 2018.](https://www.who.int/publications/i/item/9789241514064)**（引用于：家庭育儿指导课程 https://www.baoxiulan.com/services/parenting；术语表 https://www.baoxiulan.com/glossary）
- **[郑毅, 刘靖. 中国注意缺陷多动障碍防治指南（第二版）[M]. 中华医学电子音像出版社, 2015. ISBN 9787830050443.](https://book.douban.com/subject/27091543/)**（引用于：多动症 ADHD https://www.baoxiulan.com/services/adhd）
- **[American Psychiatric Association. Diagnostic and statistical manual of mental disorders (DSM-5)[M]. American Psychiatric Publishing, 2013.](https://doi.org/10.1176/appi.books.9780890425596)**（引用于：学习障碍 https://www.baoxiulan.com/services/learning-disability；术语表 https://www.baoxiulan.com/glossary）
- **[World Health Organization. International Classification of Functioning, Disability and Health: Children & Youth Version (ICF-CY)[M]. World Health Organization, 2007. ISBN 9789241547321.](https://www.who.int/publications/i/item/9789241547321)**（引用于：早期综合训练 https://www.baoxiulan.com/programs/early；作业训练 https://www.baoxiulan.com/programs/ot；训练器材与教具 https://www.baoxiulan.com/equipment）
- **[Amiel-Tison C. Clinical assessment of the infant nervous system. In: Levene MI, Chervenak FA, Whittle M, eds. Fetal and neonatal neurology and neurosurgery. 3rd ed[M]. Churchill Livingstone, 2001. ISBN 9780443064395.](https://search.worldcat.org/title/46420524)**（引用于：0～1 岁神经运动 20 项检查 https://www.baoxiulan.com/bxl-ina；评估量表一览 https://www.baoxiulan.com/assessments）
- **[National Research Council. Educating Children with Autism[M]. National Academies Press, 2001.](https://www.nationalacademies.org/read/10017/chapter/18)**（引用于：自闭症谱系障碍 ASD https://www.baoxiulan.com/services/autism；融合教育 https://www.baoxiulan.com/programs/inclusion；行为矫正训练 https://www.baoxiulan.com/programs/behavior）
- **[Amiel-Tison C, Grenier A. Neurological assessment during the first year of life[M]. Oxford University Press, 1986. ISBN 9780195035070.](https://search.worldcat.org/title/12421943)**（引用于：0～1 岁神经运动 20 项检查 https://www.baoxiulan.com/bxl-ina）

## 网页与公开记录（282）

- **[MedlinePlus Genetics. 15q11-q13 duplication syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-11).](https://medlineplus.gov/genetics/condition/15q11-q13-duplication-syndrome/)**（引用于：15q11.2-q13.1 重复综合征 https://www.baoxiulan.com/rare-diseases/dup15q-syndrome）
- **[Orphanet. 15q11q13 微重复综合征（ORPHA:238446）[EB/OL]. Orphanet, 2026. (访问于 2026-09-11).](https://www.orpha.net/en/disease/detail/238446)**（引用于：15q11.2-q13.1 重复综合征 https://www.baoxiulan.com/rare-diseases/dup15q-syndrome）
- **[Orphanet. 17p11.2 微重复综合征（ORPHA:1713）[EB/OL]. Orphanet, 2026. (访问于 2026-09-11).](https://www.orpha.net/en/disease/detail/1713)**（引用于：Potocki-Lupski 综合征 https://www.baoxiulan.com/rare-diseases/potocki-lupski-syndrome）
- **[Orphanet. 21 三体综合征（ORPHA:870）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/870)**（引用于：21 三体综合征 https://www.baoxiulan.com/rare-diseases/down-syndrome）
- **[Orphanet. 21-羟化酶缺乏症（ORPHA:90794）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/90794)**（引用于：21-羟化酶缺乏症 https://www.baoxiulan.com/rare-diseases/congenital-adrenal-hyperplasia）
- **[MedlinePlus Genetics. 21-hydroxylase deficiency[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/21-hydroxylase-deficiency/)**（引用于：21-羟化酶缺乏症 https://www.baoxiulan.com/rare-diseases/congenital-adrenal-hyperplasia）
- **[21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1171/)**（引用于：21-羟化酶缺乏症 https://www.baoxiulan.com/rare-diseases/congenital-adrenal-hyperplasia）
- **[Orphanet. 22q11.2 缺失综合征（ORPHA:567）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/567)**（引用于：22q11.2 缺失综合征 https://www.baoxiulan.com/rare-diseases/22q11-deletion）
- **[MedlinePlus Genetics. 22q11.2 deletion syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome/)**（引用于：22q11.2 缺失综合征 https://www.baoxiulan.com/rare-diseases/22q11-deletion）
- **[McDonald-McGinn D M, Hain H S, Emanuel B S, 等. 22q11.2 Deletion Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1523/)**（引用于：22q11.2 缺失综合征 https://www.baoxiulan.com/rare-diseases/22q11-deletion）
- **[MedlinePlus Genetics. 22q13.3 deletion syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/22q133-deletion-syndrome/)**（引用于：Phelan-McDermid 综合征 https://www.baoxiulan.com/rare-diseases/phelan-mcdermid-syndrome）
- **[Orphanet. 7q11.23 微重复综合征（ORPHA:96121）[EB/OL]. Orphanet, 2026. (访问于 2026-09-11).](https://www.orpha.net/en/disease/detail/96121)**（引用于：7q11.23 重复综合征 https://www.baoxiulan.com/rare-diseases/7q11-duplication）
- **[MedlinePlus Genetics. 7q11.23 duplication syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-11).](https://medlineplus.gov/genetics/condition/7q1123-duplication-syndrome/)**（引用于：7q11.23 重复综合征 https://www.baoxiulan.com/rare-diseases/7q11-duplication）
- **[北京至爱杜氏肌营养不良关爱中心. 北京至爱杜氏肌营养不良关爱中心[EB/OL]. china-dmd.org.cn, 2026. (访问于 2026-09-10).](https://www.china-dmd.org.cn/)**（引用于：杜氏肌营养不良 https://www.baoxiulan.com/rare-diseases/duchenne-muscular-dystrophy）  
  面向杜氏肌营养不良家庭的公益组织，做疾病科普、家长培训与政策倡导。
- **[Orphanet. 苯丙酮尿症（ORPHA:716）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/716)**（引用于：苯丙酮尿症 https://www.baoxiulan.com/rare-diseases/phenylketonuria）
- **[Orphanet. 成骨不全症（ORPHA:666）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/666)**（引用于：成骨不全症 https://www.baoxiulan.com/rare-diseases/osteogenesis-imperfecta）
- **[Orphanet. 脆性 X 综合征（ORPHA:908）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/908)**（引用于：脆性 X 综合征 https://www.baoxiulan.com/rare-diseases/fragile-x-syndrome）
- **[Orphanet. 低磷性佝偻病（ORPHA:89936）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/89936)**（引用于：低磷性佝偻病 https://www.baoxiulan.com/rare-diseases/hypophosphatemic-rickets）
- **[Orphanet. 腓骨肌萎缩症（ORPHA:166）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/166)**（引用于：腓骨肌萎缩症 https://www.baoxiulan.com/rare-diseases/charcot-marie-tooth）
- **[Orphanet. 肌强直性营养不良（ORPHA:206647）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/206647)**（引用于：肌强直性营养不良 https://www.baoxiulan.com/rare-diseases/myotonic-dystrophy）
- **[Orphanet. 肌酸缺乏综合征（ORPHA:79172）[EB/OL]. Orphanet, 2026. (访问于 2026-09-11).](https://www.orpha.net/en/disease/detail/79172)**（引用于：脑肌酸缺乏综合征 https://www.baoxiulan.com/rare-diseases/creatine-deficiency）
- **[Orphanet. 甲基丙二酸血症（ORPHA:289504）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/289504)**（引用于：甲基丙二酸血症 https://www.baoxiulan.com/rare-diseases/methylmalonic-acidemia）
- **[Orphanet. 结节性硬化症（ORPHA:805）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/805)**（引用于：结节性硬化症 https://www.baoxiulan.com/rare-diseases/tuberous-sclerosis）
- **[Orphanet. 近端 Xq28 重复综合征（ORPHA:1762）[EB/OL]. Orphanet, 2026. (访问于 2026-09-11).](https://www.orpha.net/en/disease/detail/1762)**（引用于：MECP2 重复综合征 https://www.baoxiulan.com/rare-diseases/mecp2-duplication-syndrome）
- **[Orphanet. 经典型 GLUT1 缺乏综合征（ORPHA:71277）[EB/OL]. Orphanet, 2026. (访问于 2026-09-11).](https://www.orpha.net/en/disease/detail/71277)**（引用于：GLUT1 缺乏综合征 https://www.baoxiulan.com/rare-diseases/glut1-deficiency）
- **[Orphanet. 猫叫综合征（ORPHA:281）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/281)**（引用于：猫叫综合征 https://www.baoxiulan.com/rare-diseases/cri-du-chat-syndrome）
- **[美儿 SMA 关爱中心. 美儿 SMA 关爱中心[EB/OL]. meier.org.cn, 2026. (访问于 2026-09-10).](http://www.meier.org.cn)**（引用于：脊髓性肌萎缩症 https://www.baoxiulan.com/rare-diseases/spinal-muscular-atrophy）  
  面向脊髓性肌萎缩症家庭的公益组织，设疾病介绍、诊断检测、治疗管理、患者登记与关爱服务栏目。
- **[Orphanet. 黏多糖贮积症（ORPHA:79213）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/79213)**（引用于：黏多糖贮积症 https://www.baoxiulan.com/rare-diseases/mucopolysaccharidosis）
- **[Orphanet. 软骨发育不全（ORPHA:15）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/15)**（引用于：软骨发育不全 https://www.baoxiulan.com/rare-diseases/achondroplasia）
- **[Orphanet. 神经纤维瘤病 1 型（ORPHA:636）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/636)**（引用于：神经纤维瘤病 https://www.baoxiulan.com/rare-diseases/neurofibromatosis-type-1）
- **[Orphanet. 神经元蜡样脂褐质沉积症（ORPHA:216）[EB/OL]. Orphanet, 2026. (访问于 2026-09-11).](https://www.orpha.net/en/disease/detail/216)**（引用于：神经元蜡样脂褐质沉积症 https://www.baoxiulan.com/rare-diseases/neuronal-ceroid-lipofuscinosis）
- **[Orphanet. 四氢生物蝶呤缺乏所致高苯丙氨酸血症（ORPHA:238583）[EB/OL]. Orphanet, 2026. (访问于 2026-09-11).](https://www.orpha.net/en/disease/detail/238583)**（引用于：四氢生物蝶呤缺乏症 https://www.baoxiulan.com/rare-diseases/tetrahydrobiopterin-deficiency）
- **[Orphanet. 糖原累积病 Ⅱ 型（ORPHA:365）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/365)**（引用于：糖原累积病Ⅱ型 https://www.baoxiulan.com/rare-diseases/pompe-disease）
- **[天使综合征之家. 天使综合征之家[EB/OL]. angelman-cn.com, 2026. (访问于 2026-09-10).](https://www.angelman-cn.com)**（引用于：Angelman 综合征 https://www.baoxiulan.com/rare-diseases/angelman-syndrome）  
  中国的天使综合征患者与家属组织，做疾病科普、患者登记与家庭互助。
- **[Orphanet. 威廉姆斯综合征（ORPHA:904）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/904)**（引用于：威廉姆斯综合征 https://www.baoxiulan.com/rare-diseases/williams-syndrome）
- **[Orphanet. 先天性肌无力综合征（ORPHA:590）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/590)**（引用于：先天性肌无力综合征 https://www.baoxiulan.com/rare-diseases/congenital-myasthenic-syndrome）
- **[Orphanet. 遗传性痉挛性截瘫（ORPHA:685）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/685)**（引用于：遗传性痉挛性截瘫 https://www.baoxiulan.com/rare-diseases/hereditary-spastic-paraplegia）
- **[Orphanet. 异染性脑白质营养不良（ORPHA:512）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/512)**（引用于：异染性脑白质营养不良 https://www.baoxiulan.com/rare-diseases/metachromatic-leukodystrophy）
- **[Achondroplasia[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1152/)**（引用于：软骨发育不全 https://www.baoxiulan.com/rare-diseases/achondroplasia）
- **[MedlinePlus Genetics. Achondroplasia[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/achondroplasia/)**（引用于：软骨发育不全 https://www.baoxiulan.com/rare-diseases/achondroplasia）
- **[MedlinePlus Genetics. ADNP syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-11).](https://medlineplus.gov/genetics/condition/adnp-syndrome/)**（引用于：ADNP 综合征 https://www.baoxiulan.com/rare-diseases/adnp-syndrome）
- **[MedlinePlus Genetics. Angelman syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/angelman-syndrome/)**（引用于：Angelman 综合征 https://www.baoxiulan.com/rare-diseases/angelman-syndrome）
- **[Orphanet. Angelman syndrome（ORPHA:72）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/72)**（引用于：Angelman 综合征 https://www.baoxiulan.com/rare-diseases/angelman-syndrome）
- **[Morel Swols D, Tekin M. ANKRD11-Related KBG Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/books/NBK487886/)**（引用于：KBG 综合征 https://www.baoxiulan.com/rare-diseases/kbg-syndrome；Coffin-Siris 综合征 https://www.baoxiulan.com/rare-diseases/coffin-siris-syndrome）  
  2018 年 3 月首发，2026 年 6 月更新；临床描述依据 375 例以上已报道患者。
- **[Arylsulfatase A Deficiency[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1130/)**（引用于：异染性脑白质营养不良 https://www.baoxiulan.com/rare-diseases/metachromatic-leukodystrophy）
- **[Wolf B. Biotinidase Deficiency[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1322/)**（引用于：生物素酶缺乏症 https://www.baoxiulan.com/rare-diseases/biotinidase-deficiency）  
  2000 年 3 月首发，2026 年 2 月修订。
- **[Nagy A, Bley AE, 等. Canavan Disease[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1234/)**（引用于：亚历山大病 https://www.baoxiulan.com/rare-diseases/alexander-disease；Canavan 病 https://www.baoxiulan.com/rare-diseases/canavan-disease）  
  1999 年 9 月首发，2026 年 6 月更新。
- **[Orphanet. CDKL5 缺乏症（ORPHA:505652）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/505652)**（引用于：CDKL5 缺乏症 https://www.baoxiulan.com/rare-diseases/cdkl5-deficiency）
- **[MedlinePlus Genetics. CDKL5 deficiency disorder[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder/)**（引用于：CDKL5 缺乏症 https://www.baoxiulan.com/rare-diseases/cdkl5-deficiency）
- **[Benke T A, Demarest S, Angione K, 等. CDKL5 Deficiency Disorder[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK602610/)**（引用于：CDKL5 缺乏症 https://www.baoxiulan.com/rare-diseases/cdkl5-deficiency）
- **[MedlinePlus Genetics. Charcot-Marie-Tooth disease[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/charcot-marie-tooth-disease/)**（引用于：腓骨肌萎缩症 https://www.baoxiulan.com/rare-diseases/charcot-marie-tooth）
- **[Charcot-Marie-Tooth Hereditary Neuropathy Overview[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1358/)**（引用于：腓骨肌萎缩症 https://www.baoxiulan.com/rare-diseases/charcot-marie-tooth；遗传性痉挛性截瘫 https://www.baoxiulan.com/rare-diseases/hereditary-spastic-paraplegia）
- **[Orphanet. CHARGE 综合征（ORPHA:138）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/138)**（引用于：CHARGE 综合征 https://www.baoxiulan.com/rare-diseases/charge-syndrome）
- **[MedlinePlus Genetics. CHARGE syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/charge-syndrome/)**（引用于：CHARGE 综合征 https://www.baoxiulan.com/rare-diseases/charge-syndrome）
- **[van Ravenswaaij-Arts C, Martin D M, 等. CHD7 Disorder[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1117/)**（引用于：CHARGE 综合征 https://www.baoxiulan.com/rare-diseases/charge-syndrome）
- **[Orphanet. CHD8 过度生长综合征（ORPHA:642675）[EB/OL]. Orphanet, 2026. (访问于 2026-09-11).](https://www.orpha.net/en/disease/detail/642675)**（引用于：CHD8 相关神经发育障碍 https://www.baoxiulan.com/rare-diseases/chd8-neurodevelopmental-disorder）
- **[MedlinePlus Genetics. CHD8 gene[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-11).](https://medlineplus.gov/genetics/gene/chd8/)**（引用于：CHD8 相关神经发育障碍 https://www.baoxiulan.com/rare-diseases/chd8-neurodevelopmental-disorder）
- **[Orphanet. Chronic inflammatory demyelinating polyneuropathy（ORPHA:2932）[EB/OL]. INSERM, 2026. (访问于 2026-09-12).](https://www.orpha.net/en/disease/detail/2932)**（引用于：慢性炎性脱髓鞘性多发性神经根神经病 https://www.baoxiulan.com/rare-diseases/cidp）
- **[Adam M P, Conta J, Bean L J H. Classic Mowat-Wilson Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/books/NBK1412/)**（引用于：Mowat-Wilson 综合征 https://www.baoxiulan.com/rare-diseases/mowat-wilson-syndrome）  
  2007 年 3 月首发，2026 年 6 月修订。
- **[MedlinePlus Genetics. CLN2 disease[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-11).](https://medlineplus.gov/genetics/condition/cln2-disease/)**（引用于：神经元蜡样脂褐质沉积症 https://www.baoxiulan.com/rare-diseases/neuronal-ceroid-lipofuscinosis）
- **[MedlinePlus Genetics. CLN3 disease[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-11).](https://medlineplus.gov/genetics/condition/cln3-disease/)**（引用于：神经元蜡样脂褐质沉积症 https://www.baoxiulan.com/rare-diseases/neuronal-ceroid-lipofuscinosis）
- **[Orphanet. Coffin-Siris 综合征（ORPHA:1465）[EB/OL]. Orphanet, 2026. (访问于 2026-09-11).](https://www.orpha.net/en/disease/detail/1465)**（引用于：Coffin-Siris 综合征 https://www.baoxiulan.com/rare-diseases/coffin-siris-syndrome）
- **[MedlinePlus Genetics. Coffin-Siris syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-11).](https://medlineplus.gov/genetics/condition/coffin-siris-syndrome/)**（引用于：Coffin-Siris 综合征 https://www.baoxiulan.com/rare-diseases/coffin-siris-syndrome）
- **[COL1A1- and COL1A2-Related Osteogenesis Imperfecta[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1295/)**（引用于：成骨不全症 https://www.baoxiulan.com/rare-diseases/osteogenesis-imperfecta；低磷性佝偻病 https://www.baoxiulan.com/rare-diseases/hypophosphatemic-rickets；反复骨折与骨脆性增高 https://www.baoxiulan.com/rare-diseases/sign/fracture）
- **[MedlinePlus Genetics. Congenital myasthenic syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/congenital-myasthenic-syndrome/)**（引用于：先天性肌无力综合征 https://www.baoxiulan.com/rare-diseases/congenital-myasthenic-syndrome）
- **[Congenital Myasthenic Syndromes Overview[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1168/)**（引用于：先天性肌无力综合征 https://www.baoxiulan.com/rare-diseases/congenital-myasthenic-syndrome）
- **[Orphanet. Cornelia de Lange 综合征（ORPHA:199）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/199)**（引用于：Cornelia de Lange 综合征 https://www.baoxiulan.com/rare-diseases/cornelia-de-lange-syndrome）
- **[MedlinePlus Genetics. Cornelia de Lange syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/cornelia-de-lange-syndrome/)**（引用于：Cornelia de Lange 综合征 https://www.baoxiulan.com/rare-diseases/cornelia-de-lange-syndrome）
- **[Deardorff M A, Noon S E, Krantz I D. Cornelia de Lange Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1104/)**（引用于：Cornelia de Lange 综合征 https://www.baoxiulan.com/rare-diseases/cornelia-de-lange-syndrome；Rubinstein-Taybi 综合征 https://www.baoxiulan.com/rare-diseases/rubinstein-taybi-syndrome）
- **[MedlinePlus Genetics. Cowden syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-11).](https://medlineplus.gov/genetics/condition/cowden-syndrome/)**（引用于：PTEN 错构瘤肿瘤综合征 https://www.baoxiulan.com/rare-diseases/pten-hamartoma-tumor-syndrome）
- **[MedlinePlus Genetics. Cri-du-chat syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome/)**（引用于：猫叫综合征 https://www.baoxiulan.com/rare-diseases/cri-du-chat-syndrome）
- **[MedlinePlus Genetics. Dandy-Walker malformation[EB/OL]. National Library of Medicine (US), 2026. (访问于 2026-09-12).](https://medlineplus.gov/genetics/condition/dandy-walker-malformation/)**（引用于：Dandy-Walker 畸形 https://www.baoxiulan.com/rare-diseases/dandy-walker-malformation）
- **[MedlinePlus Genetics. Down syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/down-syndrome/)**（引用于：21 三体综合征 https://www.baoxiulan.com/rare-diseases/down-syndrome）
- **[Pal A, Daley S F. Down Syndrome[EB/OL]. StatPearls，美国国家生物技术信息中心, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK526016/)**（引用于：21 三体综合征 https://www.baoxiulan.com/rare-diseases/down-syndrome）
- **[Orphanet. Dravet 综合征（ORPHA:33069）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/33069)**（引用于：婴儿严重肌阵挛性癫痫 https://www.baoxiulan.com/rare-diseases/dravet-syndrome）
- **[MedlinePlus Genetics. Duchenne and Becker muscular dystrophy[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/duchenne-and-becker-muscular-dystrophy/)**（引用于：杜氏肌营养不良 https://www.baoxiulan.com/rare-diseases/duchenne-muscular-dystrophy）
- **[Orphanet. Duchenne muscular dystrophy（ORPHA:98896）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/98896)**（引用于：杜氏肌营养不良 https://www.baoxiulan.com/rare-diseases/duchenne-muscular-dystrophy）
- **[Orphanet. DYRK1A 综合征（ORPHA:464306）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/464306)**（引用于：DYRK1A 综合征 https://www.baoxiulan.com/rare-diseases/dyrk1a-syndrome）
- **[MedlinePlus Genetics. DYRK1A gene[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/gene/dyrk1a/)**（引用于：DYRK1A 综合征 https://www.baoxiulan.com/rare-diseases/dyrk1a-syndrome）
- **[Earl R K, Bernier R A, 等. DYRK1A Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK333438/)**（引用于：DYRK1A 综合征 https://www.baoxiulan.com/rare-diseases/dyrk1a-syndrome）
- **[MedlinePlus Genetics. Fibrodysplasia ossificans progressiva[EB/OL]. National Library of Medicine (US), 2026. (访问于 2026-09-12).](https://medlineplus.gov/genetics/condition/fibrodysplasia-ossificans-progressiva/)**（引用于：进行性骨化性纤维发育不良 https://www.baoxiulan.com/rare-diseases/fibrodysplasia-ossificans-progressiva）
- **[FMR1 Disorders[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1384/)**（引用于：脆性 X 综合征 https://www.baoxiulan.com/rare-diseases/fragile-x-syndrome）
- **[MedlinePlus Genetics. Fragile X syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/fragile-x-syndrome/)**（引用于：脆性 X 综合征 https://www.baoxiulan.com/rare-diseases/fragile-x-syndrome）
- **[National Center for Biotechnology Information. Gene database[EB/OL]. National Library of Medicine (US), 2026. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/gene)**（引用于：鸟氨酸氨甲酰基转移酶缺乏症 https://www.baoxiulan.com/rare-diseases/ornithine-transcarbamylase-deficiency；瓜氨酸血症 https://www.baoxiulan.com/rare-diseases/citrullinemia；精氨酸酶缺乏症 https://www.baoxiulan.com/rare-diseases/arginase-deficiency；丙酸血症 https://www.baoxiulan.com/rare-diseases/propionic-acidemia；异戊酸血症 https://www.baoxiulan.com/rare-diseases/isovaleric-acidemia；半乳糖血症 https://www.baoxiulan.com/rare-diseases/galactosemia；原发性肉碱缺乏症 https://www.baoxiulan.com/rare-diseases/primary-carnitine-deficiency；戈谢病 https://www.baoxiulan.com/rare-diseases/gaucher-disease；低碱性磷酸酶血症 https://www.baoxiulan.com/rare-diseases/hypophosphatasia；马凡综合征 https://www.baoxiulan.com/rare-diseases/marfan-syndrome；先天性肌营养不良（胶原Ⅵ相关肌病） https://www.baoxiulan.com/rare-diseases/congenital-muscular-dystrophy；Pelizaeus-Merzbacher 病 https://www.baoxiulan.com/rare-diseases/pelizaeus-merzbacher-disease；亚历山大病 https://www.baoxiulan.com/rare-diseases/alexander-disease；Canavan 病 https://www.baoxiulan.com/rare-diseases/canavan-disease；Zellweger 谱系障碍 https://www.baoxiulan.com/rare-diseases/zellweger-spectrum-disorder；Menkes 病 https://www.baoxiulan.com/rare-diseases/menkes-disease；L1 综合征 https://www.baoxiulan.com/rare-diseases/l1-syndrome；共济失调毛细血管扩张症 https://www.baoxiulan.com/rare-diseases/ataxia-telangiectasia；KCNQ2 相关障碍 https://www.baoxiulan.com/rare-diseases/kcnq2-related-disorders；进行性骨化性纤维发育不良 https://www.baoxiulan.com/rare-diseases/fibrodysplasia-ossificans-progressiva；Sturge-Weber 综合征 https://www.baoxiulan.com/rare-diseases/sturge-weber-syndrome）  
  基因的染色体定位以本库的 maplocation 为准；《罕见病诊疗指南（2019 年版）》个别章节的定位有笔误。
- **[Shearer A E, Hildebrand M S, Odell A M, 等. Genetic Hearing Loss Overview[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1434/)**（引用于：非综合征型耳聋 https://www.baoxiulan.com/rare-diseases/nonsyndromic-hearing-loss）  
  1999 年 2 月首发，2026 年 6 月修订。
- **[MedlinePlus Genetics. GLUT1 deficiency syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-11).](https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome/)**（引用于：GLUT1 缺乏综合征 https://www.baoxiulan.com/rare-diseases/glut1-deficiency）
- **[Larson A, Coughlin C. Glutaric Acidemia Type 1[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK546575/)**（引用于：戊二酸血症Ⅰ型 https://www.baoxiulan.com/rare-diseases/glutaric-acidemia-type-1）  
  2019 年 9 月首发，2026 年 6 月更新。
- **[Orphanet. Helsmoortel-Van der Aa 综合征（ORPHA:404448）[EB/OL]. Orphanet, 2026. (访问于 2026-09-11).](https://www.orpha.net/en/disease/detail/404448)**（引用于：ADNP 综合征 https://www.baoxiulan.com/rare-diseases/adnp-syndrome）
- **[MedlinePlus Genetics. Isolated growth hormone deficiency[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/isolated-growth-hormone-deficiency/)**（引用于：原发性生长激素缺乏症 https://www.baoxiulan.com/rare-diseases/growth-hormone-deficiency）
- **[Isolated Methylmalonic Acidemia[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1231/)**（引用于：甲基丙二酸血症 https://www.baoxiulan.com/rare-diseases/methylmalonic-acidemia；新生儿筛查结果异常 https://www.baoxiulan.com/rare-diseases/sign/newborn-screening）
- **[Glass I A, Dempsey J C, Parisi M, 等. Joubert Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1325/)**（引用于：Joubert 综合征 https://www.baoxiulan.com/rare-diseases/joubert-syndrome；视觉行为异常 https://www.baoxiulan.com/rare-diseases/sign/vision）  
  2003 年 7 月首发，2026 年 2 月修订。
- **[Orphanet. Kabuki 综合征（ORPHA:2322）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/2322)**（引用于：Kabuki 综合征 https://www.baoxiulan.com/rare-diseases/kabuki-syndrome）
- **[MedlinePlus Genetics. Kabuki syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/kabuki-syndrome/)**（引用于：Kabuki 综合征 https://www.baoxiulan.com/rare-diseases/kabuki-syndrome）
- **[Adam M P, Banka S, Bjornsson H T, 等. Kabuki Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK62111/)**（引用于：Kabuki 综合征 https://www.baoxiulan.com/rare-diseases/kabuki-syndrome）
- **[Orphanet. KBG 综合征（ORPHA:2332）[EB/OL]. Orphanet, 2026. (访问于 2026-09-11).](https://www.orpha.net/en/disease/detail/2332)**（引用于：KBG 综合征 https://www.baoxiulan.com/rare-diseases/kbg-syndrome）
- **[MedlinePlus Genetics. KBG syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-11).](https://medlineplus.gov/genetics/condition/kbg-syndrome/)**（引用于：KBG 综合征 https://www.baoxiulan.com/rare-diseases/kbg-syndrome）
- **[Orphanet. Kleefstra 综合征（ORPHA:261494）[EB/OL]. Orphanet, 2026. (访问于 2026-09-11).](https://www.orpha.net/en/disease/detail/261494)**（引用于：Kleefstra 综合征 https://www.baoxiulan.com/rare-diseases/kleefstra-syndrome）
- **[MedlinePlus Genetics. Kleefstra syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-11).](https://medlineplus.gov/genetics/condition/kleefstra-syndrome/)**（引用于：Kleefstra 综合征 https://www.baoxiulan.com/rare-diseases/kleefstra-syndrome）
- **[Orphanet. Koolen-de Vries 综合征（ORPHA:96169）[EB/OL]. Orphanet, 2026. (访问于 2026-09-11).](https://www.orpha.net/en/disease/detail/96169)**（引用于：Koolen-de Vries 综合征 https://www.baoxiulan.com/rare-diseases/koolen-de-vries-syndrome）
- **[MedlinePlus Genetics. Koolen-de Vries syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-11).](https://medlineplus.gov/genetics/condition/koolen-de-vries-syndrome/)**（引用于：Koolen-de Vries 综合征 https://www.baoxiulan.com/rare-diseases/koolen-de-vries-syndrome）
- **[MedlinePlus Genetics. Leber congenital amaurosis[EB/OL]. National Library of Medicine (US), 2026. (访问于 2026-09-12).](https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis/)**（引用于：Leber 先天性黑矇 https://www.baoxiulan.com/rare-diseases/leber-congenital-amaurosis）
- **[MedlinePlus Genetics. MECP2 duplication syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-11).](https://medlineplus.gov/genetics/condition/mecp2-duplication-syndrome/)**（引用于：MECP2 重复综合征 https://www.baoxiulan.com/rare-diseases/mecp2-duplication-syndrome）
- **[MedlinePlus Genetics. Metachromatic leukodystrophy[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/metachromatic-leukodystrophy/)**（引用于：异染性脑白质营养不良 https://www.baoxiulan.com/rare-diseases/metachromatic-leukodystrophy）
- **[MedlinePlus Genetics. Methylmalonic acidemia[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/methylmalonic-acidemia/)**（引用于：甲基丙二酸血症 https://www.baoxiulan.com/rare-diseases/methylmalonic-acidemia）
- **[Orphanet. Mowat-Wilson 综合征（ORPHA:2152）[EB/OL]. Orphanet, 2026. (访问于 2026-09-11).](https://www.orpha.net/en/disease/detail/2152)**（引用于：Mowat-Wilson 综合征 https://www.baoxiulan.com/rare-diseases/mowat-wilson-syndrome）
- **[MedlinePlus Genetics. Mowat-Wilson syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-11).](https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome/)**（引用于：Mowat-Wilson 综合征 https://www.baoxiulan.com/rare-diseases/mowat-wilson-syndrome）
- **[MedlinePlus Genetics. Mucopolysaccharidosis type I[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-i/)**（引用于：黏多糖贮积症 https://www.baoxiulan.com/rare-diseases/mucopolysaccharidosis）
- **[Mucopolysaccharidosis Type I[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1162/)**（引用于：黏多糖贮积症 https://www.baoxiulan.com/rare-diseases/mucopolysaccharidosis；视觉行为异常 https://www.baoxiulan.com/rare-diseases/sign/vision）
- **[Scarpa M, Lampe C. Mucopolysaccharidosis Type II[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1274/)**（引用于：黏多糖贮积症 https://www.baoxiulan.com/rare-diseases/mucopolysaccharidosis）
- **[MedlinePlus Genetics. Mucopolysaccharidosis type III[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-iii/)**（引用于：黏多糖贮积症 https://www.baoxiulan.com/rare-diseases/mucopolysaccharidosis）
- **[MedlinePlus Genetics. Mucopolysaccharidosis type IV[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-iv/)**（引用于：黏多糖贮积症 https://www.baoxiulan.com/rare-diseases/mucopolysaccharidosis）
- **[MedlinePlus Genetics. Myotonic dystrophy[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/myotonic-dystrophy/)**
- **[Myotonic Dystrophy Type 1[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1165/)**（引用于：肌强直性营养不良 https://www.baoxiulan.com/rare-diseases/myotonic-dystrophy）
- **[Neurofibromatosis 1[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1109/)**（引用于：神经纤维瘤病 https://www.baoxiulan.com/rare-diseases/neurofibromatosis-type-1；Noonan 综合征 https://www.baoxiulan.com/rare-diseases/noonan-syndrome；咖啡牛奶斑、色素脱失斑与鲜红斑痣 https://www.baoxiulan.com/rare-diseases/sign/skin-marks）
- **[MedlinePlus Genetics. Neurofibromatosis type 1[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/neurofibromatosis-type-1/)**（引用于：神经纤维瘤病 https://www.baoxiulan.com/rare-diseases/neurofibromatosis-type-1；咖啡牛奶斑、色素脱失斑与鲜红斑痣 https://www.baoxiulan.com/rare-diseases/sign/skin-marks）
- **[Orphanet. Noonan 综合征（ORPHA:648）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/648)**（引用于：Noonan 综合征 https://www.baoxiulan.com/rare-diseases/noonan-syndrome）
- **[MedlinePlus Genetics. Noonan syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/noonan-syndrome/)**（引用于：Noonan 综合征 https://www.baoxiulan.com/rare-diseases/noonan-syndrome）
- **[Noonan Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1124/)**（引用于：Noonan 综合征 https://www.baoxiulan.com/rare-diseases/noonan-syndrome；原发性生长激素缺乏症 https://www.baoxiulan.com/rare-diseases/growth-hormone-deficiency）
- **[MedlinePlus Genetics. Osteogenesis imperfecta[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta/)**（引用于：成骨不全症 https://www.baoxiulan.com/rare-diseases/osteogenesis-imperfecta；反复骨折与骨脆性增高 https://www.baoxiulan.com/rare-diseases/sign/fracture）
- **[Phelan-McDermid Syndrome Foundation. Our History[EB/OL]. Phelan-McDermid Syndrome Foundation, 2026. (访问于 2026-09-10).](https://pmsf.org/history/)**（引用于：Phelan-McDermid 综合征 https://www.baoxiulan.com/rare-diseases/phelan-mcdermid-syndrome）  
  病名的由来出自这里：2003 年由患者家长提议采用。
- **[Orphanet. Phelan-McDermid 综合征（ORPHA:48652）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/48652)**（引用于：Phelan-McDermid 综合征 https://www.baoxiulan.com/rare-diseases/phelan-mcdermid-syndrome）
- **[Phelan K, Rogers R C, Boccuto L. Phelan-McDermid Syndrome-SHANK3 Related[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1198/)**（引用于：Phelan-McDermid 综合征 https://www.baoxiulan.com/rare-diseases/phelan-mcdermid-syndrome）
- **[Phenylalanine Hydroxylase Deficiency[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1504/)**（引用于：苯丙酮尿症 https://www.baoxiulan.com/rare-diseases/phenylketonuria；新生儿筛查结果异常 https://www.baoxiulan.com/rare-diseases/sign/newborn-screening）
- **[MedlinePlus Genetics. Phenylketonuria[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/phenylketonuria/)**（引用于：苯丙酮尿症 https://www.baoxiulan.com/rare-diseases/phenylketonuria）
- **[Orphanet. Pitt-Hopkins 综合征（ORPHA:2896）[EB/OL]. Orphanet, 2026. (访问于 2026-09-11).](https://www.orpha.net/en/disease/detail/2896)**（引用于：Pitt-Hopkins 综合征 https://www.baoxiulan.com/rare-diseases/pitt-hopkins-syndrome）
- **[MedlinePlus Genetics. Pitt-Hopkins syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-11).](https://medlineplus.gov/genetics/condition/pitt-hopkins-syndrome/)**（引用于：Pitt-Hopkins 综合征 https://www.baoxiulan.com/rare-diseases/pitt-hopkins-syndrome）
- **[MedlinePlus Genetics. Polymicrogyria[EB/OL]. National Library of Medicine (US), 2026. (访问于 2026-09-12).](https://medlineplus.gov/genetics/condition/polymicrogyria/)**（引用于：多小脑回 https://www.baoxiulan.com/rare-diseases/polymicrogyria）
- **[MedlinePlus Genetics. Pompe disease[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/pompe-disease/)**（引用于：糖原累积病Ⅱ型 https://www.baoxiulan.com/rare-diseases/pompe-disease）
- **[Pompe Disease[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1261/)**（引用于：糖原累积病Ⅱ型 https://www.baoxiulan.com/rare-diseases/pompe-disease）
- **[MedlinePlus Genetics. Potocki-Lupski syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-11).](https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome/)**（引用于：Potocki-Lupski 综合征 https://www.baoxiulan.com/rare-diseases/potocki-lupski-syndrome）
- **[MedlinePlus Genetics. Prader-Willi syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/prader-willi-syndrome/)**（引用于：Prader-Willi 综合征 https://www.baoxiulan.com/rare-diseases/prader-willi-syndrome）
- **[Orphanet. Prader-Willi syndrome（ORPHA:739）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/739)**（引用于：Prader-Willi 综合征 https://www.baoxiulan.com/rare-diseases/prader-willi-syndrome）
- **[Orphanet. Proximal spinal muscular atrophy（ORPHA:70）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/70)**（引用于：脊髓性肌萎缩症 https://www.baoxiulan.com/rare-diseases/spinal-muscular-atrophy）
- **[Orphanet. PTEN 错构瘤肿瘤综合征（ORPHA:306498）[EB/OL]. Orphanet, 2026. (访问于 2026-09-11).](https://www.orpha.net/en/disease/detail/306498)**（引用于：PTEN 错构瘤肿瘤综合征 https://www.baoxiulan.com/rare-diseases/pten-hamartoma-tumor-syndrome）
- **[Tramontana T, Yehia L. PTEN Hamartoma Tumor Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/books/NBK1488/)**（引用于：PTEN 错构瘤肿瘤综合征 https://www.baoxiulan.com/rare-diseases/pten-hamartoma-tumor-syndrome）  
  2001 年 11 月首发，2026 年 7 月更新。
- **[National Center for Biotechnology Information. PTS 6-pyruvoyl-tetrahydropterin synthase [Homo sapiens]（Gene ID 5805）[EB/OL]. NCBI Gene, 2026. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/gene/5805)**（引用于：四氢生物蝶呤缺乏症 https://www.baoxiulan.com/rare-diseases/tetrahydrobiopterin-deficiency）  
  QDPR、GCH1 的定位分别见 Gene ID 5860、2643。
- **[Opladen T, Longo N, Blau N. PTS-Related Tetrahydrobiopterin Deficiency (PTPSD)[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/books/NBK616086/)**（引用于：四氢生物蝶呤缺乏症 https://www.baoxiulan.com/rare-diseases/tetrahydrobiopterin-deficiency）  
  2025 年 7 月首发，2026 年 3 月修订。
- **[National Eye Institute. Retinopathy of Prematurity[EB/OL]. National Institutes of Health (US), 2026. (访问于 2026-09-12).](https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/retinopathy-prematurity)**（引用于：早产儿视网膜病变 https://www.baoxiulan.com/rare-diseases/retinopathy-of-prematurity）
- **[MedlinePlus Genetics. Rett syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/rett-syndrome/)**（引用于：Rett 综合征 https://www.baoxiulan.com/rare-diseases/rett-syndrome）
- **[Orphanet. Rubinstein-Taybi 综合征（ORPHA:783）[EB/OL]. Orphanet, 2026. (访问于 2026-09-11).](https://www.orpha.net/en/disease/detail/783)**（引用于：Rubinstein-Taybi 综合征 https://www.baoxiulan.com/rare-diseases/rubinstein-taybi-syndrome）
- **[MedlinePlus Genetics. Rubinstein-Taybi syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-11).](https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome/)**（引用于：Rubinstein-Taybi 综合征 https://www.baoxiulan.com/rare-diseases/rubinstein-taybi-syndrome）
- **[MedlinePlus Genetics. Russell-Silver syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/russell-silver-syndrome/)**（引用于：Silver-Russell 综合征 https://www.baoxiulan.com/rare-diseases/silver-russell-syndrome）
- **[SCN1A Seizure Disorders[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1318/)**（引用于：婴儿严重肌阵挛性癫痫 https://www.baoxiulan.com/rare-diseases/dravet-syndrome）
- **[Orphanet. Silver-Russell 综合征（ORPHA:813）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/813)**（引用于：Silver-Russell 综合征 https://www.baoxiulan.com/rare-diseases/silver-russell-syndrome）
- **[Silver-Russell Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1324/)**（引用于：Silver-Russell 综合征 https://www.baoxiulan.com/rare-diseases/silver-russell-syndrome）
- **[Orphanet. Smith-Lemli-Opitz 综合征（ORPHA:818）[EB/OL]. Orphanet, 2026. (访问于 2026-09-11).](https://www.orpha.net/en/disease/detail/818)**（引用于：Smith-Lemli-Opitz 综合征 https://www.baoxiulan.com/rare-diseases/smith-lemli-opitz-syndrome）
- **[MedlinePlus Genetics. Smith-Lemli-Opitz syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-11).](https://medlineplus.gov/genetics/condition/smith-lemli-opitz-syndrome/)**（引用于：Smith-Lemli-Opitz 综合征 https://www.baoxiulan.com/rare-diseases/smith-lemli-opitz-syndrome）
- **[Orphanet. Smith-Magenis 综合征（ORPHA:819）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/819)**（引用于：Smith-Magenis 综合征 https://www.baoxiulan.com/rare-diseases/smith-magenis-syndrome）
- **[MedlinePlus Genetics. Smith-Magenis syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/smith-magenis-syndrome/)**（引用于：Smith-Magenis 综合征 https://www.baoxiulan.com/rare-diseases/smith-magenis-syndrome）
- **[Smith A C M, Boyd K E, Brennan C, 等. Smith-Magenis Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1310/)**（引用于：Smith-Magenis 综合征 https://www.baoxiulan.com/rare-diseases/smith-magenis-syndrome；Potocki-Lupski 综合征 https://www.baoxiulan.com/rare-diseases/potocki-lupski-syndrome）
- **[Orphanet. Sotos 综合征（ORPHA:821）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/821)**（引用于：Sotos 综合征 https://www.baoxiulan.com/rare-diseases/sotos-syndrome）
- **[MedlinePlus Genetics. Sotos syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/sotos-syndrome/)**（引用于：Sotos 综合征 https://www.baoxiulan.com/rare-diseases/sotos-syndrome）
- **[Tatton-Brown K, Cole T R P, Rahman N. Sotos Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1479/)**（引用于：Sotos 综合征 https://www.baoxiulan.com/rare-diseases/sotos-syndrome）
- **[Parodi L, Rydning S L, Tallaksen C, 等. Spastic Paraplegia 4[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1160/)**（引用于：遗传性痉挛性截瘫 https://www.baoxiulan.com/rare-diseases/hereditary-spastic-paraplegia）
- **[MedlinePlus Genetics. Spastic paraplegia type 4[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-4/)**（引用于：遗传性痉挛性截瘫 https://www.baoxiulan.com/rare-diseases/hereditary-spastic-paraplegia）
- **[MedlinePlus Genetics. Spinal muscular atrophy[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy/)**（引用于：脊髓性肌萎缩症 https://www.baoxiulan.com/rare-diseases/spinal-muscular-atrophy）
- **[MedlinePlus Genetics. Sturge-Weber syndrome[EB/OL]. National Library of Medicine (US), 2026. (访问于 2026-09-12).](https://medlineplus.gov/genetics/condition/sturge-weber-syndrome/)**（引用于：Sturge-Weber 综合征 https://www.baoxiulan.com/rare-diseases/sturge-weber-syndrome；咖啡牛奶斑、色素脱失斑与鲜红斑痣 https://www.baoxiulan.com/rare-diseases/sign/skin-marks）
- **[Orphanet. SYNGAP1 相关发育性癫痫性脑病（ORPHA:544254）[EB/OL]. Orphanet, 2026. (访问于 2026-09-11).](https://www.orpha.net/en/disease/detail/544254)**（引用于：SYNGAP1 相关智力障碍 https://www.baoxiulan.com/rare-diseases/syngap1-intellectual-disability）
- **[MedlinePlus Genetics. SYNGAP1-related intellectual disability[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-11).](https://medlineplus.gov/genetics/condition/syngap1-related-intellectual-disability/)**（引用于：SYNGAP1 相关智力障碍 https://www.baoxiulan.com/rare-diseases/syngap1-intellectual-disability）
- **[MedlinePlus Genetics. Tetrahydrobiopterin deficiency[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-11).](https://medlineplus.gov/genetics/condition/tetrahydrobiopterin-deficiency/)**（引用于：四氢生物蝶呤缺乏症 https://www.baoxiulan.com/rare-diseases/tetrahydrobiopterin-deficiency）
- **[National Center for Biotechnology Information. TPP1 tripeptidyl peptidase 1 [Homo sapiens]（Gene ID 1200）[EB/OL]. NCBI Gene, 2026. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/gene/1200)**（引用于：神经元蜡样脂褐质沉积症 https://www.baoxiulan.com/rare-diseases/neuronal-ceroid-lipofuscinosis）  
  PPT1、CLN3 的定位分别见 Gene ID 5538、1201。
- **[MedlinePlus Genetics. Tuberous sclerosis complex[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/tuberous-sclerosis-complex/)**（引用于：结节性硬化症 https://www.baoxiulan.com/rare-diseases/tuberous-sclerosis；咖啡牛奶斑、色素脱失斑与鲜红斑痣 https://www.baoxiulan.com/rare-diseases/sign/skin-marks）
- **[Tuberous Sclerosis Complex[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1220/)**（引用于：结节性硬化症 https://www.baoxiulan.com/rare-diseases/tuberous-sclerosis；West 综合征 https://www.baoxiulan.com/rare-diseases/west-syndrome；咖啡牛奶斑、色素脱失斑与鲜红斑痣 https://www.baoxiulan.com/rare-diseases/sign/skin-marks）
- **[Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1509/)**（引用于：腓骨肌萎缩症 https://www.baoxiulan.com/rare-diseases/charcot-marie-tooth；遗传性痉挛性截瘫 https://www.baoxiulan.com/rare-diseases/hereditary-spastic-paraplegia）
- **[Orphanet. West 综合征（ORPHA:3451）[EB/OL]. Orphanet, 2026. (访问于 2026-09-10).](https://www.orpha.net/en/disease/detail/3451)**（引用于：West 综合征 https://www.baoxiulan.com/rare-diseases/west-syndrome）
- **[Genetic and Rare Diseases Information Center. West syndrome[EB/OL]. 美国国立卫生研究院国家转化科学促进中心, 2026. (访问于 2026-09-10).](https://rarediseases.info.nih.gov/diseases/7887/west-syndrome)**（引用于：West 综合征 https://www.baoxiulan.com/rare-diseases/west-syndrome）
- **[MedlinePlus Genetics. Williams syndrome[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/williams-syndrome/)**（引用于：威廉姆斯综合征 https://www.baoxiulan.com/rare-diseases/williams-syndrome）
- **[Williams Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1249/)**（引用于：威廉姆斯综合征 https://www.baoxiulan.com/rare-diseases/williams-syndrome）
- **[Orphanet. X-linked adrenoleukodystrophy（ORPHA:43）[EB/OL]. Orphanet, 2026. (访问于 2026-09-12).](https://www.orpha.net/en/disease/detail/43)**（引用于：X-连锁肾上腺脑白质营养不良 https://www.baoxiulan.com/rare-diseases/x-linked-adrenoleukodystrophy）
- **[MedlinePlus Genetics. X-linked hypophosphatemia[EB/OL]. 美国国立医学图书馆, 2026. (访问于 2026-09-10).](https://medlineplus.gov/genetics/condition/x-linked-hypophosphatemia/)**（引用于：低磷性佝偻病 https://www.baoxiulan.com/rare-diseases/hypophosphatemic-rickets）
- **[X-Linked Hypophosphatemia[EB/OL]. GeneReviews®, University of Washington, Seattle, 2026. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK83985/)**（引用于：低磷性佝偻病 https://www.baoxiulan.com/rare-diseases/hypophosphatemic-rickets；反复骨折与骨脆性增高 https://www.baoxiulan.com/rare-diseases/sign/fracture）
- **[北京市卫生健康委员会. 《学习困难门诊的规范化建设专家共识》解读[EB/OL]. 北京市卫生健康委员会, 2025. (访问于 2026-09-07).](https://wjw.beijing.gov.cn/xwzx_20031/jcdt/202504/t20250429_4077840.html)**（引用于：学习障碍 https://www.baoxiulan.com/services/learning-disability）
- **宝秀兰医疗. 宝秀兰南宁分中心「广西特殊儿童保健康复中心」正式揭牌启用（2025-08-07）[EB/OL]. 宝秀兰医疗, 2025.**（引用于：机构沿革 https://www.baoxiulan.com/about；合作机构 https://www.baoxiulan.com/partners）
- **[Harutyunyan L, Kooy R F, D’Incal C P, Van Dijck A. ADNP-Related Helsmoortel-Van der Aa Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2025. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/books/NBK355518/)**（引用于：ADNP 综合征 https://www.baoxiulan.com/rare-diseases/adnp-syndrome；Coffin-Siris 综合征 https://www.baoxiulan.com/rare-diseases/coffin-siris-syndrome）  
  2016 年 4 月首发，2025 年 8 月更新；临床描述依据 78 例队列。
- **[Dagli A I, Mathews J, Williams C A. Angelman Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2025. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1144/)**（引用于：Rett 综合征 https://www.baoxiulan.com/rare-diseases/rett-syndrome；Angelman 综合征 https://www.baoxiulan.com/rare-diseases/angelman-syndrome；Prader-Willi 综合征 https://www.baoxiulan.com/rare-diseases/prader-willi-syndrome；GLUT1 缺乏综合征 https://www.baoxiulan.com/rare-diseases/glut1-deficiency；儿童罕见病 https://www.baoxiulan.com/rare-diseases；粗大运动发育落后 https://www.baoxiulan.com/rare-diseases/sign/late-walking；语言发育迟缓 https://www.baoxiulan.com/rare-diseases/sign/no-speech；喂养困难 https://www.baoxiulan.com/rare-diseases/sign/feeding；癫痫发作 https://www.baoxiulan.com/rare-diseases/sign/seizure；头围增长异常 https://www.baoxiulan.com/rare-diseases/sign/head-size；共济失调 https://www.baoxiulan.com/rare-diseases/sign/ataxia；染色体与印记异常 https://www.baoxiulan.com/rare-diseases/category/chromosomal；术语表 https://www.baoxiulan.com/glossary）
- **[Veenhuis S, van Os N, 等. Ataxia-Telangiectasia[EB/OL]. GeneReviews®, University of Washington, Seattle, 2025. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK26468/)**（引用于：共济失调毛细血管扩张症 https://www.baoxiulan.com/rare-diseases/ataxia-telangiectasia）  
  1999 年 3 月首发，2025 年 12 月更新。
- **[Song YZ, Oishi K, Saheki T, 等. Citrin Deficiency[EB/OL]. GeneReviews®, University of Washington, Seattle, 2025. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1181/)**（引用于：瓜氨酸血症 https://www.baoxiulan.com/rare-diseases/citrullinemia）  
  2005 年 9 月首发，2025 年 3 月更新。第一作者来自暨南大学附属第一医院。
- **[Schrier Vergano S, Santen G, Wieczorek D, 等. Coffin-Siris Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2025. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/books/NBK131811/)**（引用于：Coffin-Siris 综合征 https://www.baoxiulan.com/rare-diseases/coffin-siris-syndrome）  
  2013 年 4 月首发，2025 年 5 月更新。
- **[Mercimek-Andrews S, Salomons G S. Creatine Deficiency Disorders[EB/OL]. GeneReviews®, University of Washington, Seattle, 2025. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/books/NBK3794/)**（引用于：脑肌酸缺乏综合征 https://www.baoxiulan.com/rare-diseases/creatine-deficiency）  
  2009 年 1 月首发，2022 年 2 月全面更新，2025 年 8 月修订。
- **[Edens Hurst A C. Cri du chat syndrome[EB/OL]. MedlinePlus 医学百科（A.D.A.M.），美国国立医学图书馆, 2025. (访问于 2026-09-10).](https://medlineplus.gov/ency/article/001593.htm)**（引用于：猫叫综合征 https://www.baoxiulan.com/rare-diseases/cri-du-chat-syndrome）  
  末次审校 2025-07-28。
- **[Geis T, Uyanik G, Aigner L, 等. DCX-Related Disorders[EB/OL]. GeneReviews®, University of Washington, Seattle, 2025. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1185/)**（引用于：无脑回畸形 https://www.baoxiulan.com/rare-diseases/lissencephaly）  
  2007 年 10 月首发，2025 年 6 月更新。
- **[Preston MK, Wang LH, 等. Facioscapulohumeral Muscular Dystrophy[EB/OL]. GeneReviews®, University of Washington, Seattle, 2025. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1443/)**（引用于：面肩肱型肌营养不良症 https://www.baoxiulan.com/rare-diseases/facioscapulohumeral-muscular-dystrophy）  
  1999 年 3 月首发，2025 年 7 月更新。
- **[Brockmann K, Staudt M. FOXG1 Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2025. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK604176/)**（引用于：FOXG1 综合征 https://www.baoxiulan.com/rare-diseases/foxg1-syndrome）  
  2024 年 6 月首发，2025 年 5 月修订。
- **[Wang D, Sands T, Tang M, 等. Glucose Transporter Type 1 Deficiency Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2025. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/books/NBK1430/)**（引用于：GLUT1 缺乏综合征 https://www.baoxiulan.com/rare-diseases/glut1-deficiency；神经元蜡样脂褐质沉积症 https://www.baoxiulan.com/rare-diseases/neuronal-ceroid-lipofuscinosis）  
  2002 年 7 月首发，2025 年 3 月更新。
- **[Sacharow S J, Levy H L. Homocystinuria due to Cystathionine Beta-Synthase Deficiency[EB/OL]. GeneReviews®, University of Washington, Seattle, 2025. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1524/)**（引用于：同型半胱氨酸血症 https://www.baoxiulan.com/rare-diseases/homocystinuria）  
  2004 年 1 月首发，2025 年 9 月更新。
- **[Kaur S, Christodoulou J. MECP2 Disorders[EB/OL]. GeneReviews®, University of Washington, Seattle, 2025. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1497/)**（引用于：Rett 综合征 https://www.baoxiulan.com/rare-diseases/rett-syndrome；MECP2 重复综合征 https://www.baoxiulan.com/rare-diseases/mecp2-duplication-syndrome；GLUT1 缺乏综合征 https://www.baoxiulan.com/rare-diseases/glut1-deficiency；神经发育障碍与癫痫性脑病 https://www.baoxiulan.com/rare-diseases/category/neurodevelopmental）
- **[Malik K, Santucci K, Sremba L, 等. Neuronal Ceroid Lipofuscinoses Overview[EB/OL]. GeneReviews®, University of Washington, Seattle, 2025. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/books/NBK1428/)**（引用于：GLUT1 缺乏综合征 https://www.baoxiulan.com/rare-diseases/glut1-deficiency；神经元蜡样脂褐质沉积症 https://www.baoxiulan.com/rare-diseases/neuronal-ceroid-lipofuscinosis；视觉行为异常 https://www.baoxiulan.com/rare-diseases/sign/vision）  
  2001 年 10 月首发，2025 年 5 月全面更新。
- **[Bremova-Ertl T, Patterson M. Niemann-Pick Disease Type C[EB/OL]. GeneReviews®, University of Washington, Seattle, 2025. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1296/)**（引用于：尼曼匹克病 https://www.baoxiulan.com/rare-diseases/niemann-pick-disease）  
  2000 年 1 月首发，2025 年 11 月更新。
- **[Sweetser D A, Gipson K S, Zar-Kessler C. Pitt-Hopkins Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2025. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/books/NBK100240/)**（引用于：Pitt-Hopkins 综合征 https://www.baoxiulan.com/rare-diseases/pitt-hopkins-syndrome；Kleefstra 综合征 https://www.baoxiulan.com/rare-diseases/kleefstra-syndrome）  
  2012 年 8 月首发，2025 年 5 月更新。
- **[Wolf NI, van Spaendonk RML, 等. PLP1-Related Disorders[EB/OL]. GeneReviews®, University of Washington, Seattle, 2025. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1182/)**（引用于：Pelizaeus-Merzbacher 病 https://www.baoxiulan.com/rare-diseases/pelizaeus-merzbacher-disease）  
  1999 年 6 月首发，2025 年 6 月更新。涵盖 Pelizaeus-Merzbacher 病与 PLP1 相关痉挛性截瘫。
- **[Holder J L Jr, Hamdan F F, Michaud J L. SYNGAP1-Related Intellectual Disability[EB/OL]. GeneReviews®, University of Washington, Seattle, 2025. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/books/NBK537721/)**（引用于：SYNGAP1 相关智力障碍 https://www.baoxiulan.com/rare-diseases/syngap1-intellectual-disability）  
  2019 年 2 月首发，2025 年 8 月修订。
- **[MedlinePlus Genetics. 1p36 deletion syndrome[EB/OL]. 美国国家医学图书馆, 2024. (访问于 2026-09-12).](https://medlineplus.gov/genetics/condition/1p36-deletion-syndrome/)**（引用于：1p36 缺失综合征 https://www.baoxiulan.com/rare-diseases/chromosome-1p36-deletion）
- **[山东新时代药业有限公司. 2024 年国家医保药品目录调整申报材料（公示版）：盐酸沙丙蝶呤片[EB/OL]. 国家医疗保障局, 2024. (访问于 2026-09-11).](https://www.nhsa.gov.cn/attach/Ypsn2024/YPSW202400151/YPSW202400151.pdf)**（引用于：苯丙酮尿症 https://www.baoxiulan.com/rare-diseases/phenylketonuria；四氢生物蝶呤缺乏症 https://www.baoxiulan.com/rare-diseases/tetrahydrobiopterin-deficiency）  
  含说明书适应证与批准文号；原研药 2007 年在美国上市、2010 年在国内上市、2023 年在国内退市。
- **[中国优生优育协会. 第十四届全国儿童脑健康及行为发育医工交叉学术大会在京圆满落幕[EB/OL]. 中国优生优育协会, 2024. (访问于 2026-09-07).](https://www.ysyy.org.cn/20/202406/1571.html)**（引用于：机构沿革 https://www.baoxiulan.com/about；合作机构 https://www.baoxiulan.com/partners；第十四届全国儿童脑健康及行为发育医工交叉学术大会 https://www.baoxiulan.com/partners/brain-health-2024；鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan）
- **[中国妇幼保健协会. 关于举办第89期《儿童早期发育评价、指导和干预技术》培训班的通知[EB/OL]. 中国妇幼保健协会, 2024. (访问于 2026-09-17).](https://www.cmcha.org/detail/17205757526567430758.html)**（引用于：合作机构 https://www.baoxiulan.com/partners；NBNA 方法页 https://www.baoxiulan.com/nbna）
- **[北京市广播电视局. 广播电视节目制作经营许可证行政许可公示（北京宝秀兰爱儿门诊部有限公司，2024-09-14）[EB/OL]. 北京市广播电视局, 2024. (访问于 2026-09-07).](https://gdj.beijing.gov.cn/xzxkxxgsNEW/2024/202409/t20240918_3894565.html)**（引用于：机构沿革 https://www.baoxiulan.com/about；合作机构 https://www.baoxiulan.com/partners）
- **[国家卫生健康委员会. 国务院政策例行吹风会：介绍罕见病防治与保障工作有关情况[EB/OL]. 中国政府网, 2024. (访问于 2026-09-10).](https://www.gov.cn/yaowen/liebiao/202410/content_6981620.htm)**（引用于：脊髓性肌萎缩症 https://www.baoxiulan.com/rare-diseases/spinal-muscular-atrophy；杜氏肌营养不良 https://www.baoxiulan.com/rare-diseases/duchenne-muscular-dystrophy；腓骨肌萎缩症 https://www.baoxiulan.com/rare-diseases/charcot-marie-tooth；肌强直性营养不良 https://www.baoxiulan.com/rare-diseases/myotonic-dystrophy；先天性肌无力综合征 https://www.baoxiulan.com/rare-diseases/congenital-myasthenic-syndrome；遗传性痉挛性截瘫 https://www.baoxiulan.com/rare-diseases/hereditary-spastic-paraplegia；Rett 综合征 https://www.baoxiulan.com/rare-diseases/rett-syndrome；结节性硬化症 https://www.baoxiulan.com/rare-diseases/tuberous-sclerosis；West 综合征 https://www.baoxiulan.com/rare-diseases/west-syndrome；婴儿严重肌阵挛性癫痫 https://www.baoxiulan.com/rare-diseases/dravet-syndrome；脆性 X 综合征 https://www.baoxiulan.com/rare-diseases/fragile-x-syndrome；神经纤维瘤病 https://www.baoxiulan.com/rare-diseases/neurofibromatosis-type-1；CDKL5 缺乏症 https://www.baoxiulan.com/rare-diseases/cdkl5-deficiency；Angelman 综合征 https://www.baoxiulan.com/rare-diseases/angelman-syndrome；Prader-Willi 综合征 https://www.baoxiulan.com/rare-diseases/prader-willi-syndrome；威廉姆斯综合征 https://www.baoxiulan.com/rare-diseases/williams-syndrome；Noonan 综合征 https://www.baoxiulan.com/rare-diseases/noonan-syndrome；Silver-Russell 综合征 https://www.baoxiulan.com/rare-diseases/silver-russell-syndrome；苯丙酮尿症 https://www.baoxiulan.com/rare-diseases/phenylketonuria；糖原累积病Ⅱ型 https://www.baoxiulan.com/rare-diseases/pompe-disease；黏多糖贮积症 https://www.baoxiulan.com/rare-diseases/mucopolysaccharidosis；甲基丙二酸血症 https://www.baoxiulan.com/rare-diseases/methylmalonic-acidemia；异染性脑白质营养不良 https://www.baoxiulan.com/rare-diseases/metachromatic-leukodystrophy；成骨不全症 https://www.baoxiulan.com/rare-diseases/osteogenesis-imperfecta；软骨发育不全 https://www.baoxiulan.com/rare-diseases/achondroplasia；低磷性佝偻病 https://www.baoxiulan.com/rare-diseases/hypophosphatemic-rickets；21-羟化酶缺乏症 https://www.baoxiulan.com/rare-diseases/congenital-adrenal-hyperplasia；原发性生长激素缺乏症 https://www.baoxiulan.com/rare-diseases/growth-hormone-deficiency；DYRK1A 综合征 https://www.baoxiulan.com/rare-diseases/dyrk1a-syndrome；Kabuki 综合征 https://www.baoxiulan.com/rare-diseases/kabuki-syndrome；Cornelia de Lange 综合征 https://www.baoxiulan.com/rare-diseases/cornelia-de-lange-syndrome；Sotos 综合征 https://www.baoxiulan.com/rare-diseases/sotos-syndrome；21 三体综合征 https://www.baoxiulan.com/rare-diseases/down-syndrome；22q11.2 缺失综合征 https://www.baoxiulan.com/rare-diseases/22q11-deletion；Phelan-McDermid 综合征 https://www.baoxiulan.com/rare-diseases/phelan-mcdermid-syndrome；Smith-Magenis 综合征 https://www.baoxiulan.com/rare-diseases/smith-magenis-syndrome；猫叫综合征 https://www.baoxiulan.com/rare-diseases/cri-du-chat-syndrome；CHARGE 综合征 https://www.baoxiulan.com/rare-diseases/charge-syndrome；SYNGAP1 相关智力障碍 https://www.baoxiulan.com/rare-diseases/syngap1-intellectual-disability；ADNP 综合征 https://www.baoxiulan.com/rare-diseases/adnp-syndrome；CHD8 相关神经发育障碍 https://www.baoxiulan.com/rare-diseases/chd8-neurodevelopmental-disorder；PTEN 错构瘤肿瘤综合征 https://www.baoxiulan.com/rare-diseases/pten-hamartoma-tumor-syndrome；MECP2 重复综合征 https://www.baoxiulan.com/rare-diseases/mecp2-duplication-syndrome；15q11.2-q13.1 重复综合征 https://www.baoxiulan.com/rare-diseases/dup15q-syndrome；Potocki-Lupski 综合征 https://www.baoxiulan.com/rare-diseases/potocki-lupski-syndrome；Pitt-Hopkins 综合征 https://www.baoxiulan.com/rare-diseases/pitt-hopkins-syndrome；Mowat-Wilson 综合征 https://www.baoxiulan.com/rare-diseases/mowat-wilson-syndrome；KBG 综合征 https://www.baoxiulan.com/rare-diseases/kbg-syndrome；Coffin-Siris 综合征 https://www.baoxiulan.com/rare-diseases/coffin-siris-syndrome；Koolen-de Vries 综合征 https://www.baoxiulan.com/rare-diseases/koolen-de-vries-syndrome；7q11.23 重复综合征 https://www.baoxiulan.com/rare-diseases/7q11-duplication；Kleefstra 综合征 https://www.baoxiulan.com/rare-diseases/kleefstra-syndrome；Rubinstein-Taybi 综合征 https://www.baoxiulan.com/rare-diseases/rubinstein-taybi-syndrome；Smith-Lemli-Opitz 综合征 https://www.baoxiulan.com/rare-diseases/smith-lemli-opitz-syndrome；脑肌酸缺乏综合征 https://www.baoxiulan.com/rare-diseases/creatine-deficiency；GLUT1 缺乏综合征 https://www.baoxiulan.com/rare-diseases/glut1-deficiency；神经元蜡样脂褐质沉积症 https://www.baoxiulan.com/rare-diseases/neuronal-ceroid-lipofuscinosis；四氢生物蝶呤缺乏症 https://www.baoxiulan.com/rare-diseases/tetrahydrobiopterin-deficiency；X-连锁肾上腺脑白质营养不良 https://www.baoxiulan.com/rare-diseases/x-linked-adrenoleukodystrophy；线粒体脑肌病 https://www.baoxiulan.com/rare-diseases/mitochondrial-encephalomyopathy；尼曼匹克病 https://www.baoxiulan.com/rare-diseases/niemann-pick-disease；神经节苷脂贮积症 https://www.baoxiulan.com/rare-diseases/gangliosidosis；戊二酸血症Ⅰ型 https://www.baoxiulan.com/rare-diseases/glutaric-acidemia-type-1；枫糖尿症 https://www.baoxiulan.com/rare-diseases/maple-syrup-urine-disease；生物素酶缺乏症 https://www.baoxiulan.com/rare-diseases/biotinidase-deficiency；同型半胱氨酸血症 https://www.baoxiulan.com/rare-diseases/homocystinuria；肝豆状核变性 https://www.baoxiulan.com/rare-diseases/wilson-disease；多巴反应性肌张力障碍 https://www.baoxiulan.com/rare-diseases/dopa-responsive-dystonia；Lennox-Gastaut 综合征 https://www.baoxiulan.com/rare-diseases/lennox-gastaut-syndrome；非综合征型耳聋 https://www.baoxiulan.com/rare-diseases/nonsyndromic-hearing-loss；1p36 缺失综合征 https://www.baoxiulan.com/rare-diseases/chromosome-1p36-deletion；Wolf-Hirschhorn 综合征 https://www.baoxiulan.com/rare-diseases/wolf-hirschhorn-syndrome；Joubert 综合征 https://www.baoxiulan.com/rare-diseases/joubert-syndrome；无脑回畸形 https://www.baoxiulan.com/rare-diseases/lissencephaly；FOXG1 综合征 https://www.baoxiulan.com/rare-diseases/foxg1-syndrome；STXBP1 相关发育性癫痫性脑病 https://www.baoxiulan.com/rare-diseases/stxbp1-encephalopathy；CTNNB1 相关神经发育障碍 https://www.baoxiulan.com/rare-diseases/ctnnb1-syndrome；SATB2 相关障碍 https://www.baoxiulan.com/rare-diseases/satb2-syndrome；鸟氨酸氨甲酰基转移酶缺乏症 https://www.baoxiulan.com/rare-diseases/ornithine-transcarbamylase-deficiency；瓜氨酸血症 https://www.baoxiulan.com/rare-diseases/citrullinemia；精氨酸酶缺乏症 https://www.baoxiulan.com/rare-diseases/arginase-deficiency；丙酸血症 https://www.baoxiulan.com/rare-diseases/propionic-acidemia；异戊酸血症 https://www.baoxiulan.com/rare-diseases/isovaleric-acidemia；半乳糖血症 https://www.baoxiulan.com/rare-diseases/galactosemia；原发性肉碱缺乏症 https://www.baoxiulan.com/rare-diseases/primary-carnitine-deficiency；戈谢病 https://www.baoxiulan.com/rare-diseases/gaucher-disease；全身型重症肌无力 https://www.baoxiulan.com/rare-diseases/myasthenia-gravis；低碱性磷酸酶血症 https://www.baoxiulan.com/rare-diseases/hypophosphatasia；马凡综合征 https://www.baoxiulan.com/rare-diseases/marfan-syndrome；面肩肱型肌营养不良症 https://www.baoxiulan.com/rare-diseases/facioscapulohumeral-muscular-dystrophy；先天性肌营养不良（胶原Ⅵ相关肌病） https://www.baoxiulan.com/rare-diseases/congenital-muscular-dystrophy；慢性炎性脱髓鞘性多发性神经根神经病 https://www.baoxiulan.com/rare-diseases/cidp；Pelizaeus-Merzbacher 病 https://www.baoxiulan.com/rare-diseases/pelizaeus-merzbacher-disease；亚历山大病 https://www.baoxiulan.com/rare-diseases/alexander-disease；Canavan 病 https://www.baoxiulan.com/rare-diseases/canavan-disease；Zellweger 谱系障碍 https://www.baoxiulan.com/rare-diseases/zellweger-spectrum-disorder；Menkes 病 https://www.baoxiulan.com/rare-diseases/menkes-disease；Aicardi-Goutières 综合征 https://www.baoxiulan.com/rare-diseases/aicardi-goutieres-syndrome；L1 综合征 https://www.baoxiulan.com/rare-diseases/l1-syndrome；共济失调毛细血管扩张症 https://www.baoxiulan.com/rare-diseases/ataxia-telangiectasia；KCNQ2 相关障碍 https://www.baoxiulan.com/rare-diseases/kcnq2-related-disorders；进行性骨化性纤维发育不良 https://www.baoxiulan.com/rare-diseases/fibrodysplasia-ossificans-progressiva；Dandy-Walker 畸形 https://www.baoxiulan.com/rare-diseases/dandy-walker-malformation；Sturge-Weber 综合征 https://www.baoxiulan.com/rare-diseases/sturge-weber-syndrome；多小脑回 https://www.baoxiulan.com/rare-diseases/polymicrogyria；Bardet-Biedl 综合征 https://www.baoxiulan.com/rare-diseases/bardet-biedl-syndrome；Leber 先天性黑矇 https://www.baoxiulan.com/rare-diseases/leber-congenital-amaurosis；早产儿视网膜病变 https://www.baoxiulan.com/rare-diseases/retinopathy-of-prematurity；儿童罕见病 https://www.baoxiulan.com/rare-diseases；罕见病政策与保障 https://www.baoxiulan.com/rare-diseases/policy）  
  全国罕见病诊疗协作网 2024 年扩至 419 家医院。
- **[大江网. 九江市妇幼保健院赴北京宝秀兰医疗中心拜访鲍秀兰教授（组图）[EB/OL]. 大江网九江频道, 2024. (访问于 2026-09-17).](https://jj.jxnews.com.cn/system/2024/08/05/020592880.shtml)**（引用于：合作机构 https://www.baoxiulan.com/partners）
- **[北京协和医院. 协和老专家口述历史：鲍秀兰[EB/OL]. 北京协和医院官网, 2024. (访问于 2026-09-07).](https://www.pumch.cn/detail/35747.html)**（引用于：鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan）
- **[南宁日报. 以高质量党建引领公立医院高质量发展[EB/OL]. 新浪财经, 2024. (访问于 2026-09-17).](https://finance.sina.com.cn/jjxw/2024-07-04/doc-incaxnrt5555471.shtml)**（引用于：合作机构 https://www.baoxiulan.com/partners）
- **[中国优生优育协会. 中国优生优育协会关于举办第十四届全国儿童脑健康及行为发育医工交叉学术大会暨第三届全国近红外脑功能评估临床应用论坛的通知（中优〔2024〕213号）[EB/OL]. 中国优生优育协会, 2024. (访问于 2026-09-17).](https://cmsfiles.zhongkefu.com.cn/ossysyysite/upload/ysyy/6642d9487b3c4.pdf)**（引用于：合作机构 https://www.baoxiulan.com/partners；第十四届全国儿童脑健康及行为发育医工交叉学术大会 https://www.baoxiulan.com/partners/brain-health-2024；鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan）
- **[美国食品药品监督管理局（FDA）. BRINEURA（cerliponase alfa）生物制品许可申请 761052[EB/OL]. Drugs@FDA, 2024. (访问于 2026-09-11).](https://www.accessdata.fda.gov/scripts/cder/daf/index.cfm?event=overview.process&ApplNo=761052)**（引用于：神经元蜡样脂褐质沉积症 https://www.baoxiulan.com/rare-diseases/neuronal-ceroid-lipofuscinosis）  
  2017 年 4 月 27 日首次批准；2024 年 7 月 24 日批准扩展适用人群的补充申请。
- **[MedlinePlus Genetics. Joubert syndrome[EB/OL]. 美国国家医学图书馆, 2024. (访问于 2026-09-12).](https://medlineplus.gov/genetics/condition/joubert-syndrome/)**（引用于：Joubert 综合征 https://www.baoxiulan.com/rare-diseases/joubert-syndrome）
- **[MedlinePlus Genetics. Lissencephaly[EB/OL]. 美国国家医学图书馆, 2024. (访问于 2026-09-12).](https://medlineplus.gov/genetics/condition/lissencephaly/)**（引用于：无脑回畸形 https://www.baoxiulan.com/rare-diseases/lissencephaly）
- **[Ball M, Thorburn D R, Rahman S. Mitochondrial DNA-Associated Leigh Syndrome Spectrum[EB/OL]. GeneReviews®, University of Washington, Seattle, 2024. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1173/)**（引用于：线粒体脑肌病 https://www.baoxiulan.com/rare-diseases/mitochondrial-encephalomyopathy）  
  2003 年 10 月首发，2024 年 5 月更新。
- **[Zarate Y A, Bosanko K, Fish J. SATB2-Associated Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2024. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK458647/)**（引用于：SATB2 相关障碍 https://www.baoxiulan.com/rare-diseases/satb2-syndrome）  
  2017 年 10 月首发，2024 年 6 月更新。
- **[Prior T W, Leach M E, Finanger E. Spinal Muscular Atrophy[EB/OL]. GeneReviews®, University of Washington, Seattle, 2024. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1352/)**（引用于：脊髓性肌萎缩症 https://www.baoxiulan.com/rare-diseases/spinal-muscular-atrophy）
- **[MedlinePlus Genetics. Wolf-Hirschhorn syndrome[EB/OL]. 美国国家医学图书馆, 2024. (访问于 2026-09-12).](https://medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome/)**（引用于：Wolf-Hirschhorn 综合征 https://www.baoxiulan.com/rare-diseases/wolf-hirschhorn-syndrome）
- **[MedlinePlus Genetics. X-linked adrenoleukodystrophy[EB/OL]. 美国国家医学图书馆, 2024. (访问于 2026-09-12).](https://medlineplus.gov/genetics/condition/x-linked-adrenoleukodystrophy/)**（引用于：X-连锁肾上腺脑白质营养不良 https://www.baoxiulan.com/rare-diseases/x-linked-adrenoleukodystrophy）
- **[国家医疗保障局. 《国家基本医疗保险、工伤保险和生育保险药品目录（2022 年）》解读[EB/OL]. 国家医疗保障局, 2023. (访问于 2026-09-10).](https://www.nhsa.gov.cn/art/2023/1/18/art_105_10081.html)**（引用于：脊髓性肌萎缩症 https://www.baoxiulan.com/rare-diseases/spinal-muscular-atrophy；罕见病政策与保障 https://www.baoxiulan.com/rare-diseases/policy）
- **宝秀兰医疗. 鲍秀兰教授从医 65 周年座谈会暨爱儿门诊部剪彩纪要（2023-10-17）[EB/OL]. 宝秀兰医疗, 2023.**（引用于：机构沿革 https://www.baoxiulan.com/about；合作机构 https://www.baoxiulan.com/partners；NBNA 方法页 https://www.baoxiulan.com/nbna）
- **[北京市大兴区卫生健康委员会. 关于北京宝秀兰爱儿门诊部拟执业登记注册相关情况公示（2023 年第 8 号）[EB/OL]. 北京市大兴区人民政府, 2023. (访问于 2026-09-07).](https://www.bjdx.gov.cn/bjsdxqrmzf/zwfw/sjfbzl/yl/2015377/index.html)**（引用于：机构沿革 https://www.baoxiulan.com/about；合作机构 https://www.baoxiulan.com/partners；术语表 https://www.baoxiulan.com/glossary）
- **[医师报. 我国泰斗级儿科专家鲍秀兰教授从医 65 周年座谈会在京成功举办[EB/OL]. 医师报, 2023. (访问于 2026-09-10).](https://www.mdweekly.com.cn/index/article/detail?id=44715)**（引用于：合作机构 https://www.baoxiulan.com/partners）
- **[中国优生优育协会. 我国泰斗级儿科专家鲍秀兰教授从医65周年座谈会在京成功举办[EB/OL]. 中国优生优育协会, 2023. (访问于 2026-09-07).](https://www.ysyy.org.cn/20/202310/1423.html)**（引用于：鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan）
- **[中国优生优育协会. 我国泰斗级儿科专家鲍秀兰教授从医65周年座谈会在京成功举办[EB/OL]. 中国优生优育协会, 2023. (访问于 2026-09-07).](https://www.ysyy.org.cn/20/202310/1423.html)**（引用于：机构沿革 https://www.baoxiulan.com/about；合作机构 https://www.baoxiulan.com/partners）
- **[中国优生优育协会. 小儿科的大医世界——记中国优生优育协会婴幼儿发育专委会荣誉主任、我国泰斗级儿科专家鲍秀兰教授[EB/OL]. 中国优生优育协会, 2023. (访问于 2026-09-07).](https://www.ysyy.org.cn/20/202310/1422.html)**（引用于：机构沿革 https://www.baoxiulan.com/about）
- **[中国优生优育协会. 新生儿神经行为检查技能培训班通知[EB/OL]. 中国优生优育协会, 2023. (访问于 2026-09-07).](https://cmsfiles.zhongkefu.com.cn/ossysyysite/upload/ysyy/640ff50694b3e.pdf)**（引用于：鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan；NBNA 方法页 https://www.baoxiulan.com/nbna）
- **[中国优生优育协会. 新生儿神经行为检查技能培训班通知[EB/OL]. 中国优生优育协会, 2023. (访问于 2026-09-07).](https://cmsfiles.zhongkefu.com.cn/ossysyysite/upload/ysyy/640ff50694b3e.pdf)**（引用于：机构沿革 https://www.baoxiulan.com/about；合作机构 https://www.baoxiulan.com/partners）
- **[盐酸沙丙蝶呤首仿药获批上市[EB/OL]. 中国医药报, 2023. (访问于 2026-09-11).](http://bk.cnpharm.com/zgyyb/2023/07/15/app_319559.html)**（引用于：苯丙酮尿症 https://www.baoxiulan.com/rare-diseases/phenylketonuria；四氢生物蝶呤缺乏症 https://www.baoxiulan.com/rare-diseases/tetrahydrobiopterin-deficiency）  
  2023 年 6 月 29 日获批，山东新时代药业有限公司，国药准字 H20233796。
- **[Wasserstein M P, Schuchman E H. Acid Sphingomyelinase Deficiency[EB/OL]. GeneReviews®, University of Washington, Seattle, 2023. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1370/)**（引用于：尼曼匹克病 https://www.baoxiulan.com/rare-diseases/niemann-pick-disease）  
  2006 年 12 月首发，2023 年 4 月更新；即尼曼匹克病 A/B 型。
- **[Forsyth R, Gunay-Aygun M. Bardet-Biedl Syndrome Overview[EB/OL]. GeneReviews®, University of Washington, Seattle, 2023. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1363/)**（引用于：Bardet-Biedl 综合征 https://www.baoxiulan.com/rare-diseases/bardet-biedl-syndrome）  
  2003 年 7 月首发，2023 年 3 月更新。
- **[美国食品药品监督管理局（FDA）. DAYBUE（trofinetide）新药申请 217026[EB/OL]. Drugs@FDA, 2023. (访问于 2026-09-10).](https://www.accessdata.fda.gov/scripts/cder/daf/index.cfm?event=overview.process&ApplNo=217026)**（引用于：Rett 综合征 https://www.baoxiulan.com/rare-diseases/rett-syndrome）
- **[Smith R J H, Azaiez H, Booth K. GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss[EB/OL]. GeneReviews®, University of Washington, Seattle, 2023. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1272/)**（引用于：非综合征型耳聋 https://www.baoxiulan.com/rare-diseases/nonsyndromic-hearing-loss）  
  1998 年 9 月首发，2023 年 7 月更新。
- **[Kleefstra T, de Leeuw N. Kleefstra Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2023. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/books/NBK47079/)**（引用于：Kleefstra 综合征 https://www.baoxiulan.com/rare-diseases/kleefstra-syndrome）  
  2010 年 10 月首发，2023 年 1 月更新。
- **[Koolen D A, Morgan A, de Vries B B A. Koolen-de Vries Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2023. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/books/NBK24676/)**（引用于：Koolen-de Vries 综合征 https://www.baoxiulan.com/rare-diseases/koolen-de-vries-syndrome）  
  2010 年 1 月首发，2023 年 2 月更新。
- **[Driscoll D J, Miller J L, Cassidy S B. Prader-Willi Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2023. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1330/)**（引用于：Prader-Willi 综合征 https://www.baoxiulan.com/rare-diseases/prader-willi-syndrome；染色体与印记异常 https://www.baoxiulan.com/rare-diseases/category/chromosomal；术语表 https://www.baoxiulan.com/glossary）
- **[Stevens C A. Rubinstein-Taybi Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2023. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/books/NBK1526/)**（引用于：Rubinstein-Taybi 综合征 https://www.baoxiulan.com/rare-diseases/rubinstein-taybi-syndrome）  
  2002 年 8 月首发，2023 年 11 月更新。
- **[Mercimek-Andrews S. STXBP1 Encephalopathy with Epilepsy[EB/OL]. GeneReviews®, University of Washington, Seattle, 2023. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK396561/)**（引用于：STXBP1 相关发育性癫痫性脑病 https://www.baoxiulan.com/rare-diseases/stxbp1-encephalopathy）  
  2016 年 12 月首发，2023 年 9 月更新。
- **[Weiss K H, Schilsky M. Wilson Disease[EB/OL]. GeneReviews®, University of Washington, Seattle, 2023. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1512/)**（引用于：肝豆状核变性 https://www.baoxiulan.com/rare-diseases/wilson-disease）  
  1999 年 10 月首发，2023 年 1 月更新。
- **[Raymond G V, Moser A B, Fatemi A. X-Linked Adrenoleukodystrophy[EB/OL]. GeneReviews®, University of Washington, Seattle, 2023. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1315/)**（引用于：X-连锁肾上腺脑白质营养不良 https://www.baoxiulan.com/rare-diseases/x-linked-adrenoleukodystrophy）  
  1999 年 3 月首发，2023 年 4 月更新。
- **宝秀兰医疗. 儿童节，这份来自鲍奶奶的祝福请查收（2022-06-02）[EB/OL]. 宝秀兰医疗, 2022.**（引用于：机构沿革 https://www.baoxiulan.com/about）
- **[Centers for Disease Control and Prevention. CDC’s Developmental Milestones（Learn the Signs. Act Early.）[EB/OL]. U.S. Centers for Disease Control and Prevention, 2022. (访问于 2026-09-10).](https://www.cdc.gov/act-early/milestones/)**（引用于：宝秀兰儿童神经发育综合评估系统 https://www.baoxiulan.com/bxl-cna）  
  2 月龄至 5 岁共 12 份清单、159 条里程碑
- **[Mitchel M W, Myers S M, Heidlebaugh A R, 等. CHD8-Related Neurodevelopmental Disorder with Overgrowth[EB/OL]. GeneReviews®, University of Washington, Seattle, 2022. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/books/NBK585456/)**（引用于：CHD8 相关神经发育障碍 https://www.baoxiulan.com/rare-diseases/chd8-neurodevelopmental-disorder；PTEN 错构瘤肿瘤综合征 https://www.baoxiulan.com/rare-diseases/pten-hamartoma-tumor-syndrome）  
  2022 年 10 月首发；临床描述依据 115 例已报道患者。
- **[Quinonez SC, Lee KN. Citrullinemia Type I[EB/OL]. GeneReviews®, University of Washington, Seattle, 2022. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1458/)**（引用于：瓜氨酸血症 https://www.baoxiulan.com/rare-diseases/citrullinemia）  
  2004 年 7 月首发，2022 年 8 月更新。
- **[Ho S K L, Tsang M H Y, Lee M, 等. CTNNB1 Neurodevelopmental Disorder[EB/OL]. GeneReviews®, University of Washington, Seattle, 2022. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK580527/)**（引用于：CTNNB1 相关神经发育障碍 https://www.baoxiulan.com/rare-diseases/ctnnb1-syndrome）  
  2022 年 5 月发布。
- **[Darras B T, Urion D K, Ghosh P S. Dystrophinopathies[EB/OL]. GeneReviews®, University of Washington, Seattle, 2022. (访问于 2026-09-10).](https://www.ncbi.nlm.nih.gov/books/NBK1119/)**（引用于：杜氏肌营养不良 https://www.baoxiulan.com/rare-diseases/duchenne-muscular-dystrophy；儿童罕见病 https://www.baoxiulan.com/rare-diseases；血清肌酸激酶升高 https://www.baoxiulan.com/rare-diseases/sign/high-ck）
- **[Miceli F, Soldovieri MV, 等. KCNQ2-Related Disorders[EB/OL]. GeneReviews®, University of Washington, Seattle, 2022. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK32534/)**（引用于：KCNQ2 相关障碍 https://www.baoxiulan.com/rare-diseases/kcnq2-related-disorders）  
  2010 年 4 月首发，2022 年 5 月更新。
- **[Lichter-Konecki U, Caldovic L, Morizono H, 等. Ornithine Transcarbamylase Deficiency[EB/OL]. GeneReviews®, University of Washington, Seattle, 2022. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK154378/)**（引用于：鸟氨酸氨甲酰基转移酶缺乏症 https://www.baoxiulan.com/rare-diseases/ornithine-transcarbamylase-deficiency）  
  2013 年 8 月首发，2022 年 5 月更新。OTC 基因定位 Xp11.4。
- **[中华医学会医学遗传学分会, 中国医师协会医学遗传医师分会, 中国罕见病联盟, 北京协和医院. 《中国罕见病定义研究报告 2021》发布[EB/OL]. 新华网, 2021. (访问于 2026-09-10).](https://www.news.cn/healthpro/20210913/e42663ebd66e42c58a6965d7831bf207/c.html)**（引用于：21 三体综合征 https://www.baoxiulan.com/rare-diseases/down-syndrome；7q11.23 重复综合征 https://www.baoxiulan.com/rare-diseases/7q11-duplication；儿童罕见病 https://www.baoxiulan.com/rare-diseases；罕见病政策与保障 https://www.baoxiulan.com/rare-diseases/policy；术语表 https://www.baoxiulan.com/glossary）  
  中国罕见病定义：新生儿发病率小于万分之一、患病率小于万分之一、患病人数少于 14 万，三者符合其一即为罕见病。
- **[Mervis C B, Morris C A, Klein-Tasman B P, 等. 7q11.23 Duplication Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2021. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/books/NBK327268/)**（引用于：7q11.23 重复综合征 https://www.baoxiulan.com/rare-diseases/7q11-duplication）  
  2015 年 11 月首发，2021 年 3 月更新。
- **[鲍秀兰诊室（机构账号）. 北京宝秀兰儿科诊所开业[EB/OL]. 新浪看点, 2021. (访问于 2026-09-07).](https://k.sina.cn/article_1893410897_70db285102700tnkl.html)**（引用于：机构沿革 https://www.baoxiulan.com/about）
- **[中国优生优育协会. 第十二届全国儿童发育与临床学术研讨会在京成功举办[EB/OL]. 中国优生优育协会, 2021. (访问于 2026-09-07).](https://www.ysyy.org.cn/20/202111/967.html)**（引用于：机构沿革 https://www.baoxiulan.com/about；合作机构 https://www.baoxiulan.com/partners）
- **[中国优生优育协会婴幼儿发育专业委员会. 关于举办《儿童早期发展指导师》培训班通知[EB/OL]. 中国优生优育协会, 2021. (访问于 2026-09-07).](https://www.ysyy.org.cn/19/202109/892.html)**（引用于：机构沿革 https://www.baoxiulan.com/about；合作机构 https://www.baoxiulan.com/partners；NBNA 方法页 https://www.baoxiulan.com/nbna）
- **[中国女科技工作者协会. 史轶蘩（院士风采）[EB/OL]. 中国女科技工作者协会, 2021. (访问于 2026-09-07).](http://www.cwst.net/nkxjyfc/nysfc/art/2021/art_e88b109a62d043d8811d376c345f28b8.html)**（引用于：鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan）
- **[Kaler SG. ATP7A-Related Copper Transport Disorders[EB/OL]. GeneReviews®, University of Washington, Seattle, 2021. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1413/)**（引用于：Menkes 病 https://www.baoxiulan.com/rare-diseases/menkes-disease）  
  2003 年 5 月首发，2021 年 4 月更新。涵盖 Menkes 病、枕角综合征与 ATP7A 相关远端运动神经病。
- **[Berry GT. Classic Galactosemia and Clinical Variant Galactosemia[EB/OL]. GeneReviews®, University of Washington, Seattle, 2021. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1518/)**（引用于：半乳糖血症 https://www.baoxiulan.com/rare-diseases/galactosemia）  
  2000 年 2 月首发，2021 年 3 月更新。记载即使早期规范治疗，患儿仍有发育落后、言语失用与构音障碍及运动功能异常的风险。
- **[Foley AR, Bönnemann CG, 等. Collagen VI-Related Dystrophies[EB/OL]. GeneReviews®, University of Washington, Seattle, 2021. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1503/)**（引用于：先天性肌营养不良（胶原Ⅵ相关肌病） https://www.baoxiulan.com/rare-diseases/congenital-muscular-dystrophy）  
  2004 年 6 月首发，2021 年 3 月更新。涵盖 Bethlem 肌病、中间型与 Ullrich 先天性肌营养不良。
- **[Sloan J L, Carrillo N, Adams D, 等. Disorders of Intracellular Cobalamin Metabolism[EB/OL]. GeneReviews®, University of Washington, Seattle, 2021. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1328/)**（引用于：同型半胱氨酸血症 https://www.baoxiulan.com/rare-diseases/homocystinuria）  
  2008 年 2 月首发，2021 年 12 月修订；cblC 等类型同时有甲基丙二酸血症与同型半胱氨酸血症。
- **[Regier D S, Tifft C J, Rothermel C E. GLB1-Related Disorders[EB/OL]. GeneReviews®, University of Washington, Seattle, 2021. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK164500/)**（引用于：神经节苷脂贮积症 https://www.baoxiulan.com/rare-diseases/gangliosidosis）  
  2013 年 10 月首发，2021 年 4 月更新；涵盖 GM1 神经节苷脂贮积症与黏多糖贮积症ⅣB 型。
- **[Stumpel C, Vos YJ. L1 Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2021. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1484/)**（引用于：L1 综合征 https://www.baoxiulan.com/rare-diseases/l1-syndrome）  
  2004 年 4 月首发，2021 年 1 月更新。涵盖 X 连锁脑积水、MASA 综合征与 L1CAM 相关痉挛性截瘫。
- **[Lusk L, Vogel-Farley V, DiStefano C, 等. Maternal 15q Duplication Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2021. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/books/NBK367946/)**（引用于：15q11.2-q13.1 重复综合征 https://www.baoxiulan.com/rare-diseases/dup15q-syndrome）  
  2016 年 6 月首发，2021 年 7 月更新。
- **[Brock S, Dobyns W B, Jansen A. PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia[EB/OL]. GeneReviews®, University of Washington, Seattle, 2021. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK5189/)**（引用于：无脑回畸形 https://www.baoxiulan.com/rare-diseases/lissencephaly）  
  2009 年 3 月首发，2021 年 3 月更新。
- **[Chinnery P F. Primary Mitochondrial Disorders Overview[EB/OL]. GeneReviews®, University of Washington, Seattle, 2021. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1224/)**（引用于：线粒体脑肌病 https://www.baoxiulan.com/rare-diseases/mitochondrial-encephalomyopathy）
- **[北京阳光知识产权与法律发展基金会. 「鲍秀兰阳光优智」儿童早期干预和早期发展公益基金（三方发起公告）[EB/OL]. 北京阳光知识产权与法律发展基金会, 2020. (访问于 2026-09-07).](http://www.ssip.org.cn/article.asp?id=403)**（引用于：机构沿革 https://www.baoxiulan.com/about；合作机构 https://www.baoxiulan.com/partners）
- **[Srivastava S, Waldman A, 等. Alexander Disease[EB/OL]. GeneReviews®, University of Washington, Seattle, 2020. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1172/)**（引用于：亚历山大病 https://www.baoxiulan.com/rare-diseases/alexander-disease；Canavan 病 https://www.baoxiulan.com/rare-diseases/canavan-disease）  
  2002 年 11 月首发，2020 年 11 月更新。
- **[Sun A, Crombez EA, Wong D. Arginase Deficiency[EB/OL]. GeneReviews®, University of Washington, Seattle, 2020. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1159/)**（引用于：精氨酸酶缺乏症 https://www.baoxiulan.com/rare-diseases/arginase-deficiency）  
  2004 年 10 月首发，2020 年 5 月更新。ARG1 基因定位 6q23.2。
- **[Toro C, Shirvan L, Tifft C. HEXA Disorders[EB/OL]. GeneReviews®, University of Washington, Seattle, 2020. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1218/)**（引用于：神经节苷脂贮积症 https://www.baoxiulan.com/rare-diseases/gangliosidosis）  
  1999 年 3 月首发，2020 年 10 月更新；即 Tay-Sachs 病所属的 GM2 神经节苷脂贮积症。
- **[Strauss K A, Puffenberger E G, Carson V J. Maple Syrup Urine Disease[EB/OL]. GeneReviews®, University of Washington, Seattle, 2020. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1319/)**（引用于：枫糖尿症 https://www.baoxiulan.com/rare-diseases/maple-syrup-urine-disease）  
  2006 年 1 月首发，2020 年 4 月更新。
- **[Van Esch H. MECP2 Duplication Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2020. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/books/NBK1284/)**（引用于：MECP2 重复综合征 https://www.baoxiulan.com/rare-diseases/mecp2-duplication-syndrome）  
  2008 年 1 月首发，2020 年 5 月更新。
- **[Nowaczyk M J M, Wassif C A. Smith-Lemli-Opitz Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2020. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/books/NBK1143/)**（引用于：Smith-Lemli-Opitz 综合征 https://www.baoxiulan.com/rare-diseases/smith-lemli-opitz-syndrome）  
  1998 年 11 月首发，2020 年 1 月更新。
- **[Steinberg SJ, Raymond GV, Braverman NE, 等. Zellweger Spectrum Disorder[EB/OL]. GeneReviews®, University of Washington, Seattle, 2020. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1448/)**（引用于：Zellweger 谱系障碍 https://www.baoxiulan.com/rare-diseases/zellweger-spectrum-disorder）  
  2003 年 12 月首发，2020 年 10 月更新。
- **[Furukawa Y. GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia[EB/OL]. GeneReviews®, University of Washington, Seattle, 2019. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1508/)**（引用于：多巴反应性肌张力障碍 https://www.baoxiulan.com/rare-diseases/dopa-responsive-dystonia）  
  2002 年 2 月首发，2019 年 1 月更新。
- **[中国罕见病联盟. 联盟简介[EB/OL]. 中国罕见病联盟, 2018. (访问于 2026-09-10).](https://www.chard.org.cn/about)**（引用于：脊髓性肌萎缩症 https://www.baoxiulan.com/rare-diseases/spinal-muscular-atrophy；杜氏肌营养不良 https://www.baoxiulan.com/rare-diseases/duchenne-muscular-dystrophy；腓骨肌萎缩症 https://www.baoxiulan.com/rare-diseases/charcot-marie-tooth；肌强直性营养不良 https://www.baoxiulan.com/rare-diseases/myotonic-dystrophy；先天性肌无力综合征 https://www.baoxiulan.com/rare-diseases/congenital-myasthenic-syndrome；遗传性痉挛性截瘫 https://www.baoxiulan.com/rare-diseases/hereditary-spastic-paraplegia；Rett 综合征 https://www.baoxiulan.com/rare-diseases/rett-syndrome；结节性硬化症 https://www.baoxiulan.com/rare-diseases/tuberous-sclerosis；West 综合征 https://www.baoxiulan.com/rare-diseases/west-syndrome；婴儿严重肌阵挛性癫痫 https://www.baoxiulan.com/rare-diseases/dravet-syndrome；脆性 X 综合征 https://www.baoxiulan.com/rare-diseases/fragile-x-syndrome；神经纤维瘤病 https://www.baoxiulan.com/rare-diseases/neurofibromatosis-type-1；CDKL5 缺乏症 https://www.baoxiulan.com/rare-diseases/cdkl5-deficiency；Angelman 综合征 https://www.baoxiulan.com/rare-diseases/angelman-syndrome；Prader-Willi 综合征 https://www.baoxiulan.com/rare-diseases/prader-willi-syndrome；威廉姆斯综合征 https://www.baoxiulan.com/rare-diseases/williams-syndrome；Noonan 综合征 https://www.baoxiulan.com/rare-diseases/noonan-syndrome；Silver-Russell 综合征 https://www.baoxiulan.com/rare-diseases/silver-russell-syndrome；苯丙酮尿症 https://www.baoxiulan.com/rare-diseases/phenylketonuria；糖原累积病Ⅱ型 https://www.baoxiulan.com/rare-diseases/pompe-disease；黏多糖贮积症 https://www.baoxiulan.com/rare-diseases/mucopolysaccharidosis；甲基丙二酸血症 https://www.baoxiulan.com/rare-diseases/methylmalonic-acidemia；异染性脑白质营养不良 https://www.baoxiulan.com/rare-diseases/metachromatic-leukodystrophy；成骨不全症 https://www.baoxiulan.com/rare-diseases/osteogenesis-imperfecta；软骨发育不全 https://www.baoxiulan.com/rare-diseases/achondroplasia；低磷性佝偻病 https://www.baoxiulan.com/rare-diseases/hypophosphatemic-rickets；21-羟化酶缺乏症 https://www.baoxiulan.com/rare-diseases/congenital-adrenal-hyperplasia；原发性生长激素缺乏症 https://www.baoxiulan.com/rare-diseases/growth-hormone-deficiency；DYRK1A 综合征 https://www.baoxiulan.com/rare-diseases/dyrk1a-syndrome；Kabuki 综合征 https://www.baoxiulan.com/rare-diseases/kabuki-syndrome；Cornelia de Lange 综合征 https://www.baoxiulan.com/rare-diseases/cornelia-de-lange-syndrome；Sotos 综合征 https://www.baoxiulan.com/rare-diseases/sotos-syndrome；21 三体综合征 https://www.baoxiulan.com/rare-diseases/down-syndrome；22q11.2 缺失综合征 https://www.baoxiulan.com/rare-diseases/22q11-deletion；Phelan-McDermid 综合征 https://www.baoxiulan.com/rare-diseases/phelan-mcdermid-syndrome；Smith-Magenis 综合征 https://www.baoxiulan.com/rare-diseases/smith-magenis-syndrome；猫叫综合征 https://www.baoxiulan.com/rare-diseases/cri-du-chat-syndrome；CHARGE 综合征 https://www.baoxiulan.com/rare-diseases/charge-syndrome；SYNGAP1 相关智力障碍 https://www.baoxiulan.com/rare-diseases/syngap1-intellectual-disability；ADNP 综合征 https://www.baoxiulan.com/rare-diseases/adnp-syndrome；CHD8 相关神经发育障碍 https://www.baoxiulan.com/rare-diseases/chd8-neurodevelopmental-disorder；PTEN 错构瘤肿瘤综合征 https://www.baoxiulan.com/rare-diseases/pten-hamartoma-tumor-syndrome；MECP2 重复综合征 https://www.baoxiulan.com/rare-diseases/mecp2-duplication-syndrome；15q11.2-q13.1 重复综合征 https://www.baoxiulan.com/rare-diseases/dup15q-syndrome；Potocki-Lupski 综合征 https://www.baoxiulan.com/rare-diseases/potocki-lupski-syndrome；Pitt-Hopkins 综合征 https://www.baoxiulan.com/rare-diseases/pitt-hopkins-syndrome；Mowat-Wilson 综合征 https://www.baoxiulan.com/rare-diseases/mowat-wilson-syndrome；KBG 综合征 https://www.baoxiulan.com/rare-diseases/kbg-syndrome；Coffin-Siris 综合征 https://www.baoxiulan.com/rare-diseases/coffin-siris-syndrome；Koolen-de Vries 综合征 https://www.baoxiulan.com/rare-diseases/koolen-de-vries-syndrome；7q11.23 重复综合征 https://www.baoxiulan.com/rare-diseases/7q11-duplication；Kleefstra 综合征 https://www.baoxiulan.com/rare-diseases/kleefstra-syndrome；Rubinstein-Taybi 综合征 https://www.baoxiulan.com/rare-diseases/rubinstein-taybi-syndrome；Smith-Lemli-Opitz 综合征 https://www.baoxiulan.com/rare-diseases/smith-lemli-opitz-syndrome；脑肌酸缺乏综合征 https://www.baoxiulan.com/rare-diseases/creatine-deficiency；GLUT1 缺乏综合征 https://www.baoxiulan.com/rare-diseases/glut1-deficiency；神经元蜡样脂褐质沉积症 https://www.baoxiulan.com/rare-diseases/neuronal-ceroid-lipofuscinosis；四氢生物蝶呤缺乏症 https://www.baoxiulan.com/rare-diseases/tetrahydrobiopterin-deficiency；X-连锁肾上腺脑白质营养不良 https://www.baoxiulan.com/rare-diseases/x-linked-adrenoleukodystrophy；线粒体脑肌病 https://www.baoxiulan.com/rare-diseases/mitochondrial-encephalomyopathy；尼曼匹克病 https://www.baoxiulan.com/rare-diseases/niemann-pick-disease；神经节苷脂贮积症 https://www.baoxiulan.com/rare-diseases/gangliosidosis；戊二酸血症Ⅰ型 https://www.baoxiulan.com/rare-diseases/glutaric-acidemia-type-1；枫糖尿症 https://www.baoxiulan.com/rare-diseases/maple-syrup-urine-disease；生物素酶缺乏症 https://www.baoxiulan.com/rare-diseases/biotinidase-deficiency；同型半胱氨酸血症 https://www.baoxiulan.com/rare-diseases/homocystinuria；肝豆状核变性 https://www.baoxiulan.com/rare-diseases/wilson-disease；多巴反应性肌张力障碍 https://www.baoxiulan.com/rare-diseases/dopa-responsive-dystonia；Lennox-Gastaut 综合征 https://www.baoxiulan.com/rare-diseases/lennox-gastaut-syndrome；非综合征型耳聋 https://www.baoxiulan.com/rare-diseases/nonsyndromic-hearing-loss；1p36 缺失综合征 https://www.baoxiulan.com/rare-diseases/chromosome-1p36-deletion；Wolf-Hirschhorn 综合征 https://www.baoxiulan.com/rare-diseases/wolf-hirschhorn-syndrome；Joubert 综合征 https://www.baoxiulan.com/rare-diseases/joubert-syndrome；无脑回畸形 https://www.baoxiulan.com/rare-diseases/lissencephaly；FOXG1 综合征 https://www.baoxiulan.com/rare-diseases/foxg1-syndrome；STXBP1 相关发育性癫痫性脑病 https://www.baoxiulan.com/rare-diseases/stxbp1-encephalopathy；CTNNB1 相关神经发育障碍 https://www.baoxiulan.com/rare-diseases/ctnnb1-syndrome；SATB2 相关障碍 https://www.baoxiulan.com/rare-diseases/satb2-syndrome；鸟氨酸氨甲酰基转移酶缺乏症 https://www.baoxiulan.com/rare-diseases/ornithine-transcarbamylase-deficiency；瓜氨酸血症 https://www.baoxiulan.com/rare-diseases/citrullinemia；精氨酸酶缺乏症 https://www.baoxiulan.com/rare-diseases/arginase-deficiency；丙酸血症 https://www.baoxiulan.com/rare-diseases/propionic-acidemia；异戊酸血症 https://www.baoxiulan.com/rare-diseases/isovaleric-acidemia；半乳糖血症 https://www.baoxiulan.com/rare-diseases/galactosemia；原发性肉碱缺乏症 https://www.baoxiulan.com/rare-diseases/primary-carnitine-deficiency；戈谢病 https://www.baoxiulan.com/rare-diseases/gaucher-disease；全身型重症肌无力 https://www.baoxiulan.com/rare-diseases/myasthenia-gravis；低碱性磷酸酶血症 https://www.baoxiulan.com/rare-diseases/hypophosphatasia；马凡综合征 https://www.baoxiulan.com/rare-diseases/marfan-syndrome；面肩肱型肌营养不良症 https://www.baoxiulan.com/rare-diseases/facioscapulohumeral-muscular-dystrophy；先天性肌营养不良（胶原Ⅵ相关肌病） https://www.baoxiulan.com/rare-diseases/congenital-muscular-dystrophy；慢性炎性脱髓鞘性多发性神经根神经病 https://www.baoxiulan.com/rare-diseases/cidp；Pelizaeus-Merzbacher 病 https://www.baoxiulan.com/rare-diseases/pelizaeus-merzbacher-disease；亚历山大病 https://www.baoxiulan.com/rare-diseases/alexander-disease；Canavan 病 https://www.baoxiulan.com/rare-diseases/canavan-disease；Zellweger 谱系障碍 https://www.baoxiulan.com/rare-diseases/zellweger-spectrum-disorder；Menkes 病 https://www.baoxiulan.com/rare-diseases/menkes-disease；Aicardi-Goutières 综合征 https://www.baoxiulan.com/rare-diseases/aicardi-goutieres-syndrome；L1 综合征 https://www.baoxiulan.com/rare-diseases/l1-syndrome；共济失调毛细血管扩张症 https://www.baoxiulan.com/rare-diseases/ataxia-telangiectasia；KCNQ2 相关障碍 https://www.baoxiulan.com/rare-diseases/kcnq2-related-disorders；进行性骨化性纤维发育不良 https://www.baoxiulan.com/rare-diseases/fibrodysplasia-ossificans-progressiva；Dandy-Walker 畸形 https://www.baoxiulan.com/rare-diseases/dandy-walker-malformation；Sturge-Weber 综合征 https://www.baoxiulan.com/rare-diseases/sturge-weber-syndrome；多小脑回 https://www.baoxiulan.com/rare-diseases/polymicrogyria；Bardet-Biedl 综合征 https://www.baoxiulan.com/rare-diseases/bardet-biedl-syndrome；Leber 先天性黑矇 https://www.baoxiulan.com/rare-diseases/leber-congenital-amaurosis；早产儿视网膜病变 https://www.baoxiulan.com/rare-diseases/retinopathy-of-prematurity；儿童罕见病 https://www.baoxiulan.com/rare-diseases）  
  2018 年 10 月成立，北京协和医院等发起。
- **[El-Hattab A W, Almannai M, Scaglia F. MELAS[EB/OL]. GeneReviews®, University of Washington, Seattle, 2018. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1233/)**（引用于：线粒体脑肌病 https://www.baoxiulan.com/rare-diseases/mitochondrial-encephalomyopathy）  
  2001 年 2 月首发，2018 年 11 月更新。
- **[Stutterd CA, Dobyns WB, 等. Polymicrogyria Overview[EB/OL]. GeneReviews®, University of Washington, Seattle, 2018. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1329/)**（引用于：多小脑回 https://www.baoxiulan.com/rare-diseases/polymicrogyria）  
  2005 年 4 月首发，2018 年 8 月最后更新；该章节已归档，仅作历史参考。
- **[中国残疾人联合会. 全国残疾人康复工作简报（2017 年第四期）[EB/OL]. 中国残疾人联合会, 2017. (访问于 2026-09-07).](https://www.cdpf.org.cn/ywpd/kf/gzdt4/e80d8f81ceb04f05a1f848845b53541a.htm)**（引用于：鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan）
- **[欧洲药品管理局（EMA）. Brineura（cerliponase alfa）欧洲公开评估报告[EB/OL]. European Medicines Agency, 2017. (访问于 2026-09-11).](https://www.ema.europa.eu/en/medicines/human/EPAR/brineura)**（引用于：神经元蜡样脂褐质沉积症 https://www.baoxiulan.com/rare-diseases/neuronal-ceroid-lipofuscinosis）  
  2017 年 5 月 30 日获欧盟上市许可，适应证为 CLN2 病（三肽基肽酶 1 缺乏症）。
- **[Potocki L, Neira-Fresneda J, Yuan B. Potocki-Lupski Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2017. (访问于 2026-09-11).](https://www.ncbi.nlm.nih.gov/books/NBK447920/)**（引用于：Potocki-Lupski 综合征 https://www.baoxiulan.com/rare-diseases/potocki-lupski-syndrome）  
  2017 年 8 月首发。
- **[Crow YJ. Aicardi-Goutières Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2016. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1475/)**（引用于：Aicardi-Goutières 综合征 https://www.baoxiulan.com/rare-diseases/aicardi-goutieres-syndrome）  
  2005 年 6 月首发，2016 年 11 月更新。
- **[Battaglia A, Carey J C, South S T. Wolf-Hirschhorn Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2015. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1183/)**（引用于：Wolf-Hirschhorn 综合征 https://www.baoxiulan.com/rare-diseases/wolf-hirschhorn-syndrome）  
  2002 年 4 月首发，2015 年 8 月更新；该章节已归档。
- **[Battaglia A. 1p36 Deletion Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2013. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1191/)**（引用于：1p36 缺失综合征 https://www.baoxiulan.com/rare-diseases/chromosome-1p36-deletion）  
  2008 年 2 月首发，2013 年 6 月更新；该章节已归档。
- **[蔻德罕见病中心. 关于我们[EB/OL]. 蔻德罕见病中心（CORD）, 2013. (访问于 2026-09-10).](https://www.cord.org.cn/about_us_1/1.html)**（引用于：脊髓性肌萎缩症 https://www.baoxiulan.com/rare-diseases/spinal-muscular-atrophy；腓骨肌萎缩症 https://www.baoxiulan.com/rare-diseases/charcot-marie-tooth；肌强直性营养不良 https://www.baoxiulan.com/rare-diseases/myotonic-dystrophy；先天性肌无力综合征 https://www.baoxiulan.com/rare-diseases/congenital-myasthenic-syndrome；遗传性痉挛性截瘫 https://www.baoxiulan.com/rare-diseases/hereditary-spastic-paraplegia；Rett 综合征 https://www.baoxiulan.com/rare-diseases/rett-syndrome；结节性硬化症 https://www.baoxiulan.com/rare-diseases/tuberous-sclerosis；West 综合征 https://www.baoxiulan.com/rare-diseases/west-syndrome；婴儿严重肌阵挛性癫痫 https://www.baoxiulan.com/rare-diseases/dravet-syndrome；脆性 X 综合征 https://www.baoxiulan.com/rare-diseases/fragile-x-syndrome；神经纤维瘤病 https://www.baoxiulan.com/rare-diseases/neurofibromatosis-type-1；CDKL5 缺乏症 https://www.baoxiulan.com/rare-diseases/cdkl5-deficiency；Prader-Willi 综合征 https://www.baoxiulan.com/rare-diseases/prader-willi-syndrome；威廉姆斯综合征 https://www.baoxiulan.com/rare-diseases/williams-syndrome；Noonan 综合征 https://www.baoxiulan.com/rare-diseases/noonan-syndrome；Silver-Russell 综合征 https://www.baoxiulan.com/rare-diseases/silver-russell-syndrome；苯丙酮尿症 https://www.baoxiulan.com/rare-diseases/phenylketonuria；糖原累积病Ⅱ型 https://www.baoxiulan.com/rare-diseases/pompe-disease；黏多糖贮积症 https://www.baoxiulan.com/rare-diseases/mucopolysaccharidosis；甲基丙二酸血症 https://www.baoxiulan.com/rare-diseases/methylmalonic-acidemia；异染性脑白质营养不良 https://www.baoxiulan.com/rare-diseases/metachromatic-leukodystrophy；成骨不全症 https://www.baoxiulan.com/rare-diseases/osteogenesis-imperfecta；软骨发育不全 https://www.baoxiulan.com/rare-diseases/achondroplasia；低磷性佝偻病 https://www.baoxiulan.com/rare-diseases/hypophosphatemic-rickets；21-羟化酶缺乏症 https://www.baoxiulan.com/rare-diseases/congenital-adrenal-hyperplasia；原发性生长激素缺乏症 https://www.baoxiulan.com/rare-diseases/growth-hormone-deficiency；DYRK1A 综合征 https://www.baoxiulan.com/rare-diseases/dyrk1a-syndrome；Kabuki 综合征 https://www.baoxiulan.com/rare-diseases/kabuki-syndrome；Cornelia de Lange 综合征 https://www.baoxiulan.com/rare-diseases/cornelia-de-lange-syndrome；Sotos 综合征 https://www.baoxiulan.com/rare-diseases/sotos-syndrome；21 三体综合征 https://www.baoxiulan.com/rare-diseases/down-syndrome；22q11.2 缺失综合征 https://www.baoxiulan.com/rare-diseases/22q11-deletion；Phelan-McDermid 综合征 https://www.baoxiulan.com/rare-diseases/phelan-mcdermid-syndrome；Smith-Magenis 综合征 https://www.baoxiulan.com/rare-diseases/smith-magenis-syndrome；猫叫综合征 https://www.baoxiulan.com/rare-diseases/cri-du-chat-syndrome；CHARGE 综合征 https://www.baoxiulan.com/rare-diseases/charge-syndrome；SYNGAP1 相关智力障碍 https://www.baoxiulan.com/rare-diseases/syngap1-intellectual-disability；ADNP 综合征 https://www.baoxiulan.com/rare-diseases/adnp-syndrome；CHD8 相关神经发育障碍 https://www.baoxiulan.com/rare-diseases/chd8-neurodevelopmental-disorder；PTEN 错构瘤肿瘤综合征 https://www.baoxiulan.com/rare-diseases/pten-hamartoma-tumor-syndrome；MECP2 重复综合征 https://www.baoxiulan.com/rare-diseases/mecp2-duplication-syndrome；15q11.2-q13.1 重复综合征 https://www.baoxiulan.com/rare-diseases/dup15q-syndrome；Potocki-Lupski 综合征 https://www.baoxiulan.com/rare-diseases/potocki-lupski-syndrome；Pitt-Hopkins 综合征 https://www.baoxiulan.com/rare-diseases/pitt-hopkins-syndrome；Mowat-Wilson 综合征 https://www.baoxiulan.com/rare-diseases/mowat-wilson-syndrome；KBG 综合征 https://www.baoxiulan.com/rare-diseases/kbg-syndrome；Coffin-Siris 综合征 https://www.baoxiulan.com/rare-diseases/coffin-siris-syndrome；Koolen-de Vries 综合征 https://www.baoxiulan.com/rare-diseases/koolen-de-vries-syndrome；7q11.23 重复综合征 https://www.baoxiulan.com/rare-diseases/7q11-duplication；Kleefstra 综合征 https://www.baoxiulan.com/rare-diseases/kleefstra-syndrome；Rubinstein-Taybi 综合征 https://www.baoxiulan.com/rare-diseases/rubinstein-taybi-syndrome；Smith-Lemli-Opitz 综合征 https://www.baoxiulan.com/rare-diseases/smith-lemli-opitz-syndrome；脑肌酸缺乏综合征 https://www.baoxiulan.com/rare-diseases/creatine-deficiency；GLUT1 缺乏综合征 https://www.baoxiulan.com/rare-diseases/glut1-deficiency；神经元蜡样脂褐质沉积症 https://www.baoxiulan.com/rare-diseases/neuronal-ceroid-lipofuscinosis；四氢生物蝶呤缺乏症 https://www.baoxiulan.com/rare-diseases/tetrahydrobiopterin-deficiency；X-连锁肾上腺脑白质营养不良 https://www.baoxiulan.com/rare-diseases/x-linked-adrenoleukodystrophy；线粒体脑肌病 https://www.baoxiulan.com/rare-diseases/mitochondrial-encephalomyopathy；尼曼匹克病 https://www.baoxiulan.com/rare-diseases/niemann-pick-disease；神经节苷脂贮积症 https://www.baoxiulan.com/rare-diseases/gangliosidosis；戊二酸血症Ⅰ型 https://www.baoxiulan.com/rare-diseases/glutaric-acidemia-type-1；枫糖尿症 https://www.baoxiulan.com/rare-diseases/maple-syrup-urine-disease；生物素酶缺乏症 https://www.baoxiulan.com/rare-diseases/biotinidase-deficiency；同型半胱氨酸血症 https://www.baoxiulan.com/rare-diseases/homocystinuria；肝豆状核变性 https://www.baoxiulan.com/rare-diseases/wilson-disease；多巴反应性肌张力障碍 https://www.baoxiulan.com/rare-diseases/dopa-responsive-dystonia；Lennox-Gastaut 综合征 https://www.baoxiulan.com/rare-diseases/lennox-gastaut-syndrome；非综合征型耳聋 https://www.baoxiulan.com/rare-diseases/nonsyndromic-hearing-loss；1p36 缺失综合征 https://www.baoxiulan.com/rare-diseases/chromosome-1p36-deletion；Wolf-Hirschhorn 综合征 https://www.baoxiulan.com/rare-diseases/wolf-hirschhorn-syndrome；Joubert 综合征 https://www.baoxiulan.com/rare-diseases/joubert-syndrome；无脑回畸形 https://www.baoxiulan.com/rare-diseases/lissencephaly；FOXG1 综合征 https://www.baoxiulan.com/rare-diseases/foxg1-syndrome；STXBP1 相关发育性癫痫性脑病 https://www.baoxiulan.com/rare-diseases/stxbp1-encephalopathy；CTNNB1 相关神经发育障碍 https://www.baoxiulan.com/rare-diseases/ctnnb1-syndrome；SATB2 相关障碍 https://www.baoxiulan.com/rare-diseases/satb2-syndrome；鸟氨酸氨甲酰基转移酶缺乏症 https://www.baoxiulan.com/rare-diseases/ornithine-transcarbamylase-deficiency；瓜氨酸血症 https://www.baoxiulan.com/rare-diseases/citrullinemia；精氨酸酶缺乏症 https://www.baoxiulan.com/rare-diseases/arginase-deficiency；丙酸血症 https://www.baoxiulan.com/rare-diseases/propionic-acidemia；异戊酸血症 https://www.baoxiulan.com/rare-diseases/isovaleric-acidemia；原发性肉碱缺乏症 https://www.baoxiulan.com/rare-diseases/primary-carnitine-deficiency；戈谢病 https://www.baoxiulan.com/rare-diseases/gaucher-disease；全身型重症肌无力 https://www.baoxiulan.com/rare-diseases/myasthenia-gravis；低碱性磷酸酶血症 https://www.baoxiulan.com/rare-diseases/hypophosphatasia；马凡综合征 https://www.baoxiulan.com/rare-diseases/marfan-syndrome；面肩肱型肌营养不良症 https://www.baoxiulan.com/rare-diseases/facioscapulohumeral-muscular-dystrophy；先天性肌营养不良（胶原Ⅵ相关肌病） https://www.baoxiulan.com/rare-diseases/congenital-muscular-dystrophy；慢性炎性脱髓鞘性多发性神经根神经病 https://www.baoxiulan.com/rare-diseases/cidp；亚历山大病 https://www.baoxiulan.com/rare-diseases/alexander-disease；Zellweger 谱系障碍 https://www.baoxiulan.com/rare-diseases/zellweger-spectrum-disorder；Menkes 病 https://www.baoxiulan.com/rare-diseases/menkes-disease；Aicardi-Goutières 综合征 https://www.baoxiulan.com/rare-diseases/aicardi-goutieres-syndrome；L1 综合征 https://www.baoxiulan.com/rare-diseases/l1-syndrome；共济失调毛细血管扩张症 https://www.baoxiulan.com/rare-diseases/ataxia-telangiectasia；KCNQ2 相关障碍 https://www.baoxiulan.com/rare-diseases/kcnq2-related-disorders；进行性骨化性纤维发育不良 https://www.baoxiulan.com/rare-diseases/fibrodysplasia-ossificans-progressiva；Dandy-Walker 畸形 https://www.baoxiulan.com/rare-diseases/dandy-walker-malformation；Sturge-Weber 综合征 https://www.baoxiulan.com/rare-diseases/sturge-weber-syndrome；多小脑回 https://www.baoxiulan.com/rare-diseases/polymicrogyria；Bardet-Biedl 综合征 https://www.baoxiulan.com/rare-diseases/bardet-biedl-syndrome；Leber 先天性黑矇 https://www.baoxiulan.com/rare-diseases/leber-congenital-amaurosis；早产儿视网膜病变 https://www.baoxiulan.com/rare-diseases/retinopathy-of-prematurity；儿童罕见病 https://www.baoxiulan.com/rare-diseases）  
  2013 年成立的罕见病领域公益组织，原名罕见病发展中心。
- **[Weleber RG, 等. Leber Congenital Amaurosis[EB/OL]. GeneReviews®, University of Washington, Seattle, 2013. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1298/)**（引用于：Leber 先天性黑矇 https://www.baoxiulan.com/rare-diseases/leber-congenital-amaurosis）  
  2004 年 7 月首发，2013 年 5 月最后更新；该章节已归档，仅作历史参考。
- **[Sparks SE, Quijano-Roy S, 等. Congenital Muscular Dystrophy Overview[EB/OL]. GeneReviews®, University of Washington, Seattle, 2012. (访问于 2026-09-12).](https://www.ncbi.nlm.nih.gov/books/NBK1291/)**（引用于：先天性肌营养不良（胶原Ⅵ相关肌病） https://www.baoxiulan.com/rare-diseases/congenital-muscular-dystrophy）  
  2001 年 1 月首发，2012 年 8 月最后更新；该章节已归档，仅作历史参考。
- **[李忠良. 新生儿行为神经测定[EB/OL]. 好大夫在线（潍坊市妇幼保健院）, 2009. (访问于 2026-09-07).](https://www.haodf.com/neirong/wenzhang/60562.html)**（引用于：NBNA 方法页 https://www.baoxiulan.com/nbna）
- **宝秀兰医疗. "医"路有爱，守护花开——宝秀兰医疗携手漯河市第二人民医院、漯河市儿童医院开展大型儿童健康义诊活动（2024-11-15）[EB/OL]. 宝秀兰医疗.**（引用于：合作机构 https://www.baoxiulan.com/partners）
- **[百度百科. 鲍秀兰（中国协和医科大学儿科教授）[EB/OL]. 百度百科. (访问于 2026-09-07).](https://baike.baidu.com/item/%E9%B2%8D%E7%A7%80%E5%85%B0/4813512)**（引用于：鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan）  
  三级来源，与同名词条区分
- **[北京协和医院. 鲍秀兰（专家介绍）[EB/OL]. 北京协和医院官网. (访问于 2026-09-07).](https://www.pumch.cn/detail/4442.html)**（引用于：机构沿革 https://www.baoxiulan.com/about；鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan；NBNA 方法页 https://www.baoxiulan.com/nbna）
- **[好大夫在线. 鲍秀兰医生简介[EB/OL]. 好大夫在线. (访问于 2026-09-07).](https://www.haodf.com/doctor/102260/xinxi-jieshao.html)**（引用于：鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan）
- **宝秀兰医疗. 门诊部门口铜牌（实地照片）[EB/OL]. 宝秀兰医疗.**（引用于：机构沿革 https://www.baoxiulan.com/about）
- **宝秀兰医疗. 团队荣誉[EB/OL]. 宝秀兰医疗.**（引用于：鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan）
- **[中国优生优育协会. 婴幼儿发育专业委员会（委员名单）[EB/OL]. 中国优生优育协会. (访问于 2026-09-07).](https://m.ysyy.org.cn/168/202105/461.html)**（引用于：机构沿革 https://www.baoxiulan.com/about；合作机构 https://www.baoxiulan.com/partners；鲍秀兰教授 https://www.baoxiulan.com/experts/bao-xiulan）

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育儿课堂各篇文章末尾列出的参考文献，按文章归组。

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## 常见问题

### 这些出处是怎么选的？

优先国家卫生行业标准与国家卫生健康委的规范文件，其次中华医学会、中华预防医学会等学会的指南与专家共识，再次世界卫生组织、美国儿科学会的文件与同行评议期刊的系统评价和随机对照试验。每条都在引用它的页面上有脚注编号。

### 怎么核对一条出处？

点条目的链接可到期刊、标准或政府网站的原文；期刊文章给出 DOI 或 PubMed 编号，标准给出发布机构的 PDF。

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鲍秀兰教授创办的儿童早期发展优化中心，专注 0–6 岁高危儿早期干预、发育评估与系统训练，三十余年守护儿童健康成长。

引用：北京宝秀兰儿童医疗. 指南与文献库[EB/OL]. (2026-09-17). https://www.baoxiulan.com/references