Congenital disorders of glycosylation (CDG): it's (nearly) all in it!
- 8 March 2011
- journal article
- review article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 34 (4), 853-858
- https://doi.org/10.1007/s10545-011-9299-3
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.Keywords
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