Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia
β Scribed by J.B. Arnoux; N. Boddaert; V. Valayannopoulos; S. Romano; N. Bahi-Buisson; I. Desguerre; Y. de Keyzer; A. Munnich; F. Brunelle; N. Seta; M.D. Dautzenberg; P. de Lonlay
- Book ID
- 116988313
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 238 KB
- Volume
- 93
- Category
- Article
- ISSN
- 1096-7192
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## Abstract Congenital disorders of glycosylation (CDG) are a group of metabolic disorders resulting from defective synthesis of Nβlinked oligosaccharides. CDGβIa is the most common of the 21 known types defined by defects in different steps of the synthetic pathway. An increasing number of America
The PMM2 gene, which is defective in CDG-Ia, was cloned three years ago [Matthijs et al., 1997b]. Several publications list PMM2 mutations [