Article
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.
American journal of human genetics - 1 Dec 2007
Gobin-Limballe S, Djouadi F, Aubey F, Olpin S, Andresen B S, Yamaguchi S, Mandel H, Fukao T, Ruiter J P N, Wanders R J A, McAndrew R, Kim J J, Bastin J
Abstract excerpt
Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency is an inborn mitochondrial fatty-acid beta-oxidation (FAO) defect associated with a broad mutational spectrum, with phenotypes ranging from fatal cardiopathy in infancy to adolescent-onset myopathy, and for which there is no established treatment. Recent data suggest that bezafibrate could improve the FAO capacities in beta-oxidation-deficient...
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