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CDG IIx with unusual phenotype
D Cheillan1, S Cognat, C Dorche
1Service de Biochimie Pédiatrique, Hôpital Debrousse, Lyon, France. david.cheillan@chu-lyon.fr
Journal of Inherited Metabolic Disease
|April 7, 2004
Abstract:
Congenital disorders of glycosylation (CDG) are a group of genetic diseases characterized by defective protein glycosylation. N-glycosylation defects are divided into two groups (I and II). CDG group II (types IIa to IIe) refers to defects in the Golgi processing of protein-bound glycans. We report a patient with CDG IIx and an unusual phenotype.