Article
Birth prevalence of homocystinuria.
The Journal of pediatrics - 1 Jun 2004
Refsum Helga, Fredriksen Ase, Meyer Klaus, Ueland Per M, Kase Bengt Frode
Abstract excerpt
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.
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.