Congenital disorder of glycosylation typ
Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult
✍
Kerrie L. Schoffer; John D. O'Sullivan; Jim McGill
📂
Article
📅
2006
🏛
John Wiley and Sons
🌐
English
⚖ 92 KB
## 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 early‐onset cerebellar ata