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J Pediatr. 2004 Jun;144(6):830-2.

Birth prevalence of homocystinuria.

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1
Department of Pharmacology, University of Oxford, United Kingdom. helga.refsum@pharmacology.oxford.ac.uk

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.

PMID:
15192637
DOI:
10.1016/j.jpeds.2004.03.004
[Indexed for MEDLINE]
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