Molecular diagnosis of maple syrup urine disease: Screening and identification of gene mutations in the branched‐chain α‐ketoacid dehydrogenase multienzyme complex

This publication has 29 references indexed in Scilit:

• Gene analysis of mennonite maple syrup urine disease kindred using primer‐specified restriction map modification
  Journal of Inherited Metabolic Disease, 1991
• Maple syrup urine disease: Clinical and biochemical significance of gene analysis
  Journal of Inherited Metabolic Disease, 1991
• Structure of the gene encoding the entire mature E1α subunit of human branched‐chain α‐keto acid dehydrogenase complex
  FEBS Letters, 1991
• Isolation and characterization of a complementary DNA clone coding for the E1.beta. subunit of the bovine branched-chain .alpha.-ketoacid dehydrogenase complex: complete amino acid sequence of the precursor protein and its proteolytic processing
  Biochemistry, 1990
• Complete primary structure of the transacylase (E2b) subunit of the human branched chain α-keto acid dehydrogenase complex
  Biochemical and Biophysical Research Communications, 1989
• Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity
  Human Genetics, 1988
• Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease.
  Journal of Clinical Investigation, 1987
• Absence of branched chain acyl-transferase as a cause of maple syrup urine disease.
  Journal of Clinical Investigation, 1985
• Complementation Analysis of Maple Syrup Urine Disease in Heterokaryons derived from Cultured Human Fibroblasts
  Nature, 1973
• Enzyme activity in classical and variant forms of maple syrup urine disease
  Published by Elsevier ,1972