Maple Syrup Urine Disease: Coenzyme function and prenatal monitoring
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Reference27 articles.
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3. Branched chain α-keto acid metabolism. II. Evidence for the common identity of α-ketoisocaproic acid and α-keto-β-methylvaleric acid dehydrogenases;Bowden;J Biol Chem,1968
4. Cellular localization and characterization of bovine liver branched-chain α-keto acid dehydrogenases;Johnson;Biochemistry,1972
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1. Heterogeneity in maple syrup urine disease: Aspects of cofactor requirement and complementation in cultured fibroblasts;Clinical Genetics;2008-04-23
2. A simple and rapid enzymatic assay for the branched-chain α-ketoacid dehydrogenase complex using high-performance liquid chromatography;Journal of Inherited Metabolic Disease;2004-09
3. Multigenic basis for maple syrup urine disease with emphasis on mutations in branched chain dihydrolipoyl acyltransferase;Alpha-Keto Acid Dehydrogenase Complexes;1996
4. Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism;Brain and Development;1994-11
5. Maple syrup urine disease 1954 to 1993;Journal of Inherited Metabolic Disease;1994
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