Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.

Lignende værker

• Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.
  af: Fisher, C R, et al.
  Udgivet: (1991)
• Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.
  af: Chuang, D T, et al.
  Udgivet: (1982)
• Maple syrup urine disease: branched-chain keto acid decarboxylation in fibroblasts as measured with amino acids and keto acids.
  af: Dancis, J, et al.
  Udgivet: (1977)
• Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures.
  af: Chuang, D T, et al.
  Udgivet: (1982)
• Maple syrup urine disease (branched chain ketoaciduria).
  af: Harper, P. A., et al.
  Udgivet: (1990)