Article
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency.
Pediatric research - 1 Mar 2010
van Maldegem Bianca T, Duran Marinus, Wanders Ronald J A, Waterham Hans R, Wijburg Frits A
Abstract excerpt
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an inborn error, biochemically characterized by increased plasma butyrylcarnitine (C4-C) concentration and increased ethylmalonic acid (EMA) excretion and caused by rare mutations and/or common gene variants in the SCAD encoding gene. Altho...
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