Title: Congenital disorders of glycosylation (CDG): it's (nearly) all in it!
Authors: Jaeken, Jaak # ×
Issue Date: Mar-2011
Publisher: MTP Press
Series Title: Journal of Inherited Metabolic Disease
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.
ISSN: 0141-8955
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Brain & Metabolism Section (-)
Section Child - Miscellaneous (-)
× corresponding author
# (joint) last author

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