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Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report

BACKGROUND: Lipid storage myopathy (LSM) is a diverse group of lipid metabolic disorders with great variations in the clinical phenotype and age of onset. Classical multiple acyl-CoA dehydrogenase deficiency (MADD) is known to occur secondary to mutations in electron transfer flavoprotein dehydrogen...

詳細記述

保存先:
書誌詳細
出版年:BMC Med Genomics
主要な著者: Goh, Liuh Ling, Lee, Yingshan, Tan, Ee Shien, Lim, James Soon Chuan, Lim, Chia Wei, Dalan, Rinkoo
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2018
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5883299/
https://ncbi.nlm.nih.gov/pubmed/29615056
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-018-0356-8
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