Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to ETFDH Mutations in Five Patients: A Case Series

Background: Late-onset multiple acyl-CoA dehydrogenase deficiency (LO-MADD) describes a curable autosomal recessive genetic disease caused by ETFDH mutations that result in defects in ETF-ubiquinone oxidoreductase. Almost all patients are responsive to riboflavin. This study describes the clinical p...

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Autores principales: Zhenchu Tang, Shan Gao, Miao He, Qihua Chen, Jia Fang, Yingying Luo, Weiqian Yan, Xiaoliu Shi, Hui Huang, Jianguang Tang
Formato: article
Lenguaje:EN
Publicado: Frontiers Media S.A. 2021
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Acceso en línea:https://doaj.org/article/e20ff4dec32548e2b21f04086708c4b2
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