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Journal of Inherited Metabolic Disease

Erschienen in:

01.08.2011 | CDG - An Update

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

verfasst von: Jaak Jaeken

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 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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Titel: Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!
verfasst von: Jaak Jaeken
Publikationsdatum: 01.08.2011
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 4/2011
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-011-9299-3

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