Birth prevalence of homocystinuria.

  title={Birth prevalence of homocystinuria.},
  author={Helga Refsum and Ase Fredriksen and Klaus Meyer and Per Magne Ueland and Bengt Frode Kase},
  journal={The Journal of pediatrics},
  volume={144 6},
Serious complications of homocystinuria caused by cystathionine beta-synthase deficiency can be prevented by early intervention. We determined the prevalence of 6 specific mutations in 1133 newborn blood samples. Our results suggest that homocystinuria is more common than previously reported. Newborn screening for homocystinuria through mutation detection should be further considered. 
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The molecular basis of cystathionine beta - synthase deficiency in Australian patients : genotype - phenotype correlations and response to treatment

  • TL Terry
  • Hum Mutat
  • 2002