Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.
Sarah L StentonYing ZouHua ChengZhimei LiuJunling WangDanmin ShenHong JinChanghong DingXiaolu TangSuzhen SunHong HanYanli MaWeihua ZhangRuifeng JinHua WangDan SunJun Lan LvHolger ProkischFang FangPublished in: Annals of neurology (2022)
Our data define phenotype, onset, and survival of LS in a defect-specific manner, identifying features discriminating between genetic defects and predictive of disease outcome. These findings are essential to early diagnosis, in optimizing family counseling, and to the design and monitoring of future clinical trials, the next frontier of LS research. ANN NEUROL 2022;91:466-482.
Keyphrases
- clinical trial
- young adults
- air pollution
- electronic health record
- current status
- healthcare
- genome wide
- particulate matter
- big data
- smoking cessation
- case report
- acute care
- free survival
- copy number
- adverse drug
- phase ii
- neural network
- hiv testing
- randomized controlled trial
- machine learning
- gene expression
- study protocol
- human immunodeficiency virus