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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Detalles Bibliográficos
Autores principales: Tang, Zhenchu, Gao, Shan, He, Miao, Chen, Qihua, Fang, Jia, Luo, Yingying, Yan, Weiqian, Shi, Xiaoliu, Huang, Hui, Tang, Jianguang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606537/
https://www.ncbi.nlm.nih.gov/pubmed/34819910
http://dx.doi.org/10.3389/fneur.2021.747360

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606537/
https://www.ncbi.nlm.nih.gov/pubmed/34819910
http://dx.doi.org/10.3389/fneur.2021.747360

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