Birth prevalence of homocystinuria.

@article{Refsum2004BirthPO,
  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},
  year={2004},
  volume={144 6},
  pages={
          830-2
        }
}
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. 
Highly Cited
This paper has 24 citations. REVIEW CITATIONS

From This Paper

Topics from this paper.

Citations

Publications citing this paper.
Showing 1-10 of 11 citations

References

Publications referenced by this paper.
Showing 1-10 of 10 references

The molecular basis of cystathionine beta - synthase deficiency in Australian patients : genotype - phenotype correlations and response to treatment

  • TL Terry
  • Hum Mutat
  • 2002