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Journal Article
Research Support, Non-U.S. Gov't
Birth prevalence of homocystinuria.
Journal of Pediatrics 2004 June
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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