Article
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.
Human mutation - 1 Sept 2007
Ferdinandusse Sacha, Denis Simone, Hogenhout Eveline M, Koster Janet, van Roermund Carlo W T, IJlst Lodewijk, Moser Ann B, Wanders Ronald J A, Waterham Hans R
Abstract excerpt
Peroxisomal acyl-coenzyme A (acyl-CoA) oxidase deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation due to a deficiency of straight-chain acyl-CoA oxidase (SCOX). The biochemical hallmark of this disorder is the accumulation of very long-chain fatty acids. Although some case reports and small series of patients have been published, a comprehensive overview of the clinical,...
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