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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Detalles Bibliográficos
Autores principales: Wang, Chenyi, Lv, Haihong, Xu, Xia, Ma, Yuping, Li, Qian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7533516/
https://www.ncbi.nlm.nih.gov/pubmed/33000234
http://dx.doi.org/10.3892/mmr.2020.11524

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7533516/
https://www.ncbi.nlm.nih.gov/pubmed/33000234
http://dx.doi.org/10.3892/mmr.2020.11524

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