A rapid method for assay of branched-chain keto acid decarboxylation in cultured cells and its application to prenatal diagnosis of maple syrup urine disease
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference9 articles.
1. Rapid diagnosis of maple syrup urine disease (branched chain ketoaciduria) by micro-enzyme assay in leukocytes and fibroblasts
2. Maple syrup urine disease: Rapid prenatal diagnosis by enzyme assay
3. Maple Syrup Urine Disease: Analysis of Branched Chain Ketoacid Decarboxylation in Cultured Fibroblasts
4. Enzyme defect in skin fibroblasts in intermittent branched-chain detonuria and in maple syrup urine disease
5. Enzyme activity in classical and variant forms of maple syrup urine disease
Cited by 12 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Disorders of the Metabolism of Amino Acids and Related Compounds;Genetic Disorders and the Fetus;2010-09-24
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. Maple syrup urine disease: An uncommon cause for neonatal metabolic distress;Indian Journal of Clinical Biochemistry;1999-07
4. Altered phosphorylation state of branched-chain 2-Oxo acid dehydrogenase in a branched-chain acyltransferase deficient human fibroblast cell line;Journal of Inherited Metabolic Disease;1991-01
5. Analysis of maple syrup urine disease in cell culture: Use of substrates;Clinica Chimica Acta;1989-09
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