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

01-08-2011 | CDG - An Update

Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!

Author: Jaak Jaeken

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

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Abstract

Congenital disorders of glycosylation (CDG) is a booming class of metabolic diseases. Its number has increased nearly fourfold (to 45) since 2003, the year of the Komrower lecture, entitled ‘Congenital disorders of glycosylation CDG): It’s all in it!’. This paper presents an overview of recently discovered CDG and CDG phenotypes, of a diagnostic approach, of (the lack of) treatment, of CDG genetics, of a novel CDG nomenclature and classification, and of some future directions in the CDG field.
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Metadata
Title
Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!
Author
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/s10545-011-9299-3

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Correlation of age-specific phenylalanine levels with intellectual outcome in patients with phenylketonuria

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Mouse models for congenital disorders of glycosylation
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