Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.

অনুরূপ উপাদানগুলি

• Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures.
  অনুযায়ী: Chuang, D T, অন্যান্য
  প্রকাশিত: (1982)
• Sequence of the E1 alpha subunit of branched-chain alpha-ketoacid dehydrogenase in two patients with thiamine-responsive maple syrup urine disease.
  অনুযায়ী: Zhang, B, অন্যান্য
  প্রকাশিত: (1990)
• 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.
  অনুযায়ী: Fisher, C R, অন্যান্য
  প্রকাশিত: (1991)
• Maple syrup urine disease: branched-chain keto acid decarboxylation in fibroblasts as measured with amino acids and keto acids.
  অনুযায়ী: Dancis, J, অন্যান্য
  প্রকাশিত: (1977)
• 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.
  অনুযায়ী: Fisher, C R, অন্যান্য
  প্রকাশিত: (1991)