A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family

BACKGROUND: Glutaric acidemia type II (GA II) or multiple acyl-CoA dehydrogenase deficiency (MADD, OMIM 231680) is an inherited autosomal recessive disease affecting fatty acid, amino acid and choline metabolism, due to mutations in one of three genes namely, electron transfer flavoprotein alpha-sub...

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Detalles Bibliográficos
Autores principales: Ou, Mingcai, Zhu, Lin, Zhang, Yong, Zhang, Yaguo, Zhou, Jingyao, Zhang, Yu, Chen, Xuelian, Yang, Lijuan, Li, Ting, Su, Xingyue, Hu, Qi, Wang, Wenjun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212588/
https://www.ncbi.nlm.nih.gov/pubmed/32393189
http://dx.doi.org/10.1186/s12881-020-00995-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212588/
https://www.ncbi.nlm.nih.gov/pubmed/32393189
http://dx.doi.org/10.1186/s12881-020-00995-2

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