Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited metabolic disease caused by a defect in electron transfer flavoprotein alpha (ETFA), ETF beta (ETFB), or ETF dehydrogenase (ETFDH), and riboflavin metabolism disorders have recently been reported to present as mimicking MADD. MADD is...

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Detalles Bibliográficos
Autores principales: Yamada, Kenji, Osawa, Yoshimitsu, Kobayashi, Hironori, Bo, Ryosuke, Mushimoto, Yuichi, Hasegawa, Yuki, Yamaguchi, Seiji, Taketani, Takeshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9672420/
https://www.ncbi.nlm.nih.gov/pubmed/36406819
http://dx.doi.org/10.1016/j.ymgmr.2022.100940

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