Congenital disorder of glycosylation typ
Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult
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Kerrie L. Schoffer; John D. O'Sullivan; Jim McGill
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Article
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2006
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John Wiley and Sons
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English
β 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 earlyβonset cerebellar ata