Congenital disorder of glycosylation type Ix: Review of clinical spectrum and diagnostic steps
✍ Scribed by É. Morava; H. Wosik; J. Kárteszi; M. Guillard; M. Adamowicz; J. Sykut-Cegielska; K. Hadzsiev; R. A. Wevers; D. J. Lefeber
- Book ID
- 106374347
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 263 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0141-8955
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## Abstract Congenital disorders of glycosylation (CDG) are a group of metabolic disorders resulting from defective synthesis of N‐linked oligosaccharides. CDG‐Ia is the most common of the 21 known types defined by defects in different steps of the synthetic pathway. An increasing number of America
## Abstract Congenital disorder of glycosylation (CDG) type Ic, the second largest subtype of CDG, is caused by mutations in human __ALG6__ (h__ALG6__). This gene encodes the α1,3‐glucosyltransferase that catalyzes transfer of the first glucose residue to the lipid‐linked oligosaccharide precursor