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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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Detalhes bibliográficos
Publicado no:Mol Med Rep
Main Authors: Wang, Chenyi, Lv, Haihong, Xu, Xia, Ma, Yuping, Li, Qian
Formato: Artigo
Idioma:Inglês
Publicado em: D.A. Spandidos 2020
Assuntos:
Acesso em linha: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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