Article
Immunoreactive enzyme protein in medium-chain acyl-CoA dehydrogenase deficiency.
Biochemical medicine and metabolic biology - 1 Dec 1991
Ogilvie I, Jackson S, Bartlett K, Turnbull D M
Abstract excerpt
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a common inborn error of mitochondrial fatty acid oxidation. To determine if immunoreactive enzyme protein is present in patients with MCAD deficiency, we studied cultured skin fibroblasts from patients with the 985 point mutation, present in about 85% of cases, and cell lines from patients in which the point mutation is not present or only involves one...
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