Article
Immunochemical characterization of variant medium-chain acyl-CoA dehydrogenase in fibroblasts from patients with medium-chain acyl-CoA dehydrogenase deficiency.
Pediatric research - 1 Jan 1992
Coates P M, Indo Y, Young D, Hale D E, Tanaka K
Abstract excerpt
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a common autosomal recessive disorder of mitochondrial fatty acid oxidation characterized by episodes of hypoketotic hypoglycemia usually beginning in the first 2 y of life. We previously showed, in pulse labeling experiments, that the biosynthesis and immediate posttranslational processing of MCAD are normal in fibroblasts from patients with MCAD...
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