Congenital disorders of glycosylation with emphasis on cerebellar involvement.

Abstract excerpt

Congenital disorders of glycosylation (CDG) are genetic diseases due to defective glycosylation of proteins and lipids. The authors present an update on these disorders affecting the central nervous system with a focus on cerebellar involvement. The rate of identification of novel CDG shows an exponential increase. Some 76 CDG are actually known, not taking into account the defects in glycan-modifying proteins....

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• Cerebellar Cortex
• Congenital Disorders of Glycosylation
• PMM2 gene
• Genetic Predisposition to Disease
• Glycosylation