Article
The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results.
Journal of inherited metabolic disease - 1 Oct 2010
Wanders Ronald J A, Ruiter Jos P N, IJLst Lodewijk, Waterham Hans R, Houten Sander M
Abstract excerpt
Oxidation of fatty acids in mitochondria is a key physiological process in higher eukaryotes including humans. The importance of the mitochondrial beta-oxidation system in humans is exemplified by the existence of a group of genetic diseases in man caused by an impairment in the mitochondrial oxidation of fatty acids. Identification of patients with a defect in mitochondrial beta-oxidation has long remained...
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