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Biochemistry and molecular genetics of cystathionine β-synthase deficiency

✍ Scribed by J. P. Kraus


Book ID
120907801
Publisher
Springer
Year
1998
Tongue
English
Weight
170 KB
Volume
157
Category
Article
ISSN
0340-6997

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Cystathionine beta-synthase deficiency i
✍ J. Sokolová; B. Janošíková; J.D. Terwilliger; T. Freiberger; J. P. Kraus; V. Koz 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 59 KB

Recent reports suggested that homocystinuria due to cystathionine beta-synthase (CBS) deficiency is a more common inborn error of metabolism than originally thought. In this study we compared the prevalence of homocystinuric alleles ascertained by two different approaches. First, the incidence of ho