Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.

Antzeko izenburuak

• The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.
  nork: Kluijtmans, L A, et al.
  Argitaratua: (1999)
• Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine
  nork: Mudd, S. Harvey, et al.
  Argitaratua: (1970)
• Affinity of Cystathionine β-Synthase for Pyridoxal 5′-Phosphate in Cultured Cells: A MECHANISM FOR PYRIDOXINE-RESPONSIVE HOMOCYSTINURIA
  nork: Lipson, Mark H., et al.
  Argitaratua: (1980)
• A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.
  nork: Shih, V E, et al.
  Argitaratua: (1995)
• The natural history of homocystinuria due to cystathionine β-synthase deficiency
  nork: Mudd, S. Harvey, et al.
  Argitaratua: (1985)