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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Bibliografiska uppgifter
I publikationen:Mol Med Rep
Huvudupphovsmän: Wang, Chenyi, Lv, Haihong, Xu, Xia, Ma, Yuping, Li, Qian
Materialtyp: Artigo
Språk:Inglês
Publicerad: D.A. Spandidos 2020
Ämnen:
Articles
Länkar: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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