title: Birth prevalence of homocystinuria.
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.
authors.affiliation: Department of Pharmacology, University of Oxford, United Kingdom. helga.refsum@pharmacology.oxford.ac.uk
authors.forename: Helga
authors.initials: H
authors.lastname: Refsum
authors.forename: Ase
authors.initials: A
authors.lastname: Fredriksen
authors.forename: Klaus
authors.initials: K
authors.lastname: Meyer
authors.forename: Per M
authors.initials: PM
authors.lastname: Ueland
authors.forename: Bengt Frode
authors.initials: BF
authors.lastname: Kase
mesh_terms: D003541:Cystathionine beta-Synthase / Q000235:genetics*; D005260:Female; D006712:Homocystinuria / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D017720:Molecular Epidemiology; D009154:Mutation; D015997:Neonatal Screening; D009664:Norway / Q000453:epidemiology; D015995:Prevalence
chemical_list: D003541:Cystathionine beta-Synthase