Clinical characteristics and gene mutation analysis of an adult patient with ETFDH-related multiple acyl-CoA dehydrogenase deficiency

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive disorder of fatty acid metabolism caused by defects in electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH). These defects are mainly classified into the neonatal and late-onset ty...

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Udgivet i:Mol Med Rep
Main Authors: Wang, Chenyi, Lv, Haihong, Xu, Xia, Ma, Yuping, Li, Qian
Format: Artigo
Sprog:Inglês
Udgivet: D.A. Spandidos 2020
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7533516/
https://ncbi.nlm.nih.gov/pubmed/33000234
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2020.11524
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