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.

Lignende værker

• Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.
  af: Kluijtmans, L A, et al.
  Udgivet: (1996)
• Structural basis for substrate activation and regulation by cystathionine beta-synthase (CBS) domains in cystathionine β-synthase
  af: Koutmos, Markos, et al.
  Udgivet: (2010)
• Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization
  af: Voskoboeva, Elena, et al.
  Udgivet: (2017)
• The natural history of homocystinuria due to cystathionine β-synthase deficiency
  af: Mudd, S. Harvey, et al.
  Udgivet: (1985)
• The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
  af: Sebastio, G, et al.
  Udgivet: (1995)