| Literature DB >> 15192637 |
Helga Refsum1, Ase Fredriksen, Klaus Meyer, Per M Ueland, Bengt Frode Kase.
Abstract
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.Entities:
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Year: 2004 PMID： 15192637 DOI： 10.1016/j.jpeds.2004.03.004
Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406