Case report: Novel ETFDH compound heterozygous mutations identified in a patient with late-onset glutaric aciduria type II

Glutaric aciduria type II (GA II) is an autosomal recessive metabolic disorder of fatty acid, amino acid, and choline metabolism. The late-onset form of this disorder is caused by a defect in the mitochondrial electron transfer flavoprotein dehydrogenase or the electron transfer flavoprotein dehydro...

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Detalles Bibliográficos
Autores principales: Zhu, Sijia, Ding, Dongxue, Jiang, Jianhua, Liu, Meirong, Yu, Liqiang, Fang, Qi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9911658/
https://www.ncbi.nlm.nih.gov/pubmed/36779069
http://dx.doi.org/10.3389/fneur.2023.1087421

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9911658/
https://www.ncbi.nlm.nih.gov/pubmed/36779069
http://dx.doi.org/10.3389/fneur.2023.1087421

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