Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening
β Scribed by S. Vermeer; H. P. H. Kremer; Q. H. Leijten; H. Scheffer; G. Matthijs; R. A. Wevers; N. A. V. M. Knoers; E. Morava; D. J. Lefeber
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 198 KB
- Volume
- 254
- Category
- Article
- ISSN
- 0340-5354
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## 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
## Abstract Congenital disorders of glycosylation (CDG) are a recently described, underrecognized group of syndromes characterized biochemically by abnormal glycosylation of serum and cellular glycoproteins. We report a previously undiagnosed adult male who presented with earlyβonset cerebellar ata