Article
Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD).
PloS one - 17 Dec 2009
Song Yuanquan, Selak Mary A, Watson Corey T, Coutts Christopher, Scherer Paul C, Panzer Jessica A, Gibbs Sarah, Scott Marion O, Willer Gregory, Gregg Ronald G, Ali Declan W, Bennett Michael J, Balice-Gordon Rita J
Abstract excerpt
In humans, mutations in electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH) lead to MADD/glutaric aciduria type II, an autosomal recessively inherited disorder characterized by a broad spectrum of devastating neurological, systemic and metabolic symptoms....
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