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- W2756053796 abstract "To report a novel mutation in the electron transfer flavoprotein dehydrogenase (ETFDH) gene in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.The genomic DNAs from a patient whose main clinical presentations are muscles weakness and hypoglycemia was analysed.The patient was identified to carry compound heterozygous mutations in ETFDH gene. Two missense mutations c.814 G > A and c.389 A > T were found.This is the first report of c.814G > A mutation in ETFDH in adult patient with MADD." @default.
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- W2756053796 date "2017-10-09" @default.
- W2756053796 modified "2023-09-27" @default.
- W2756053796 title "A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency" @default.
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- W2756053796 doi "https://doi.org/10.1080/00207454.2017.1380641" @default.
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