Pericardial and abdominal fluid accumulation in Congenital Disorder of Glycosylation type Ia
β Scribed by Gerben Truin; Mailys Guillard; Dirk J. Lefeber; Jolanta Sykut-Cegielska; Maciej Adamowicz; Esther Hoppenreijs; Rob C.A. Sengers; Ron A. Wevers; Eva Morava
- Book ID
- 116988383
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 289 KB
- Volume
- 94
- 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 [