Congenital Disorders of Glycosylation: A Review

  title={Congenital Disorders of Glycosylation: A Review},
  author={Stephanie Gruenewald and Gert Matthijs and Jaak Jaeken},
  journal={Pediatric Research},
Congenital disorders of glycosylation (CDGs) are a rapidly growing group of inherited disorders caused by defects in the synthesis and processing of the asparagine(ASN)-linked oligosaccharides of glycoproteins. The first CDG patients were described in 1980. Fifteen years later, a phosphomannomutase deficiency was found as the basis of the most frequent type, CDG-Ia. In recent years several novel types have been identified. The N-glycosylation pathway is highly conserved from yeast to human, and… CONTINUE READING


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Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis

  • S Grünewald, T Imbach, +11 authors RA Wevers
  • Ann Neurol
  • 2000

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