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Open Access 01-08-2011 | Editorial

How to find and diagnose a CDG due to defective N-glycosylation

Authors: Dirk J. Lefeber, Eva Morava, Jaak Jaeken

Published in: Journal of Inherited Metabolic Disease | Issue 4/2011

Excerpt

The group of Congenital Disorders of Glycosylation (CDG) is expanding rapidly since the first clinical description of the N-glycosylation defect PMM2-CDG (CDG-Ia) in 1980 (Jaeken et al. 1980). Since then, more than 50 defects have been identified in protein N-glycosylation (some of them also associated with an O-glycosylation defect), in protein O-glycosylation only and in lipid glycosylation (GPI anchor and glycosphingolipid synthesis). Here, we provide a simple approach to the clinical, biochemical and genetic diagnosis of CDG due to a N-glycosylation defect (including combined N- and O-glycosylation defects). …

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Title: How to find and diagnose a CDG due to defective N-glycosylation
Authors: Dirk J. Lefeber
Eva Morava
Jaak Jaeken
Publication date: 01-08-2011
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 4/2011
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-011-9370-0

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