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Cystathionine-β-synthase deficiency: Detection of heterozygotes by the ratios of homocystein to cysteine and folate

✍ Scribed by A.M. Boddie; M.T. Steen; K.M. Sullivan; M. Pasquali; P.P. Dembure; R.J. Coates; L.J. Elsas II


Book ID
117180578
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
603 KB
Volume
47
Category
Article
ISSN
1532-8600

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The molecular basis of cystathionine β-s
✍ Mette Gaustadnes; Bridget Wilcken; Jana Oliveriusova; Jim McGill; Janice Fletche 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 162 KB

Cystathionine beta-synthase (CBS) deficiency is the most common cause of homocystinuria. It is inherited as an autosomal recessive trait and common clinical features are: dislocation of the optic lens, osteoporosis, mental retardation, and thromboembolism. We determined the molecular basis of CBS de