A systemic search for novel congenital disorders of Glycosylation type 1 (CDG-I), with a comprehensive evaluation of the clinical phenotypes. KU Leuven
Glycosylation is one of the most abundant protein modifications found in nature. It results from a meticulously orchestrated process involving numerous proteins for the assembly and modification of oligosaccharide chains, and their attachment onto proteins and lipids. The importance of glycosylation is illustrated by a group of diseases called Congenital Disorders of Glycosylation (CDG). To date, almost 100 distinct disorders have been ...