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Title: Congenital disorders of glycosylation: the rapidly growing tip of the iceberg
Authors: Jaeken, Jacques ×
Carchon, Hubert #
Issue Date: Dec-2001
Series Title: Current opinion in neurology vol:14 issue:6 pages:811-5
Abstract: In addition to many other organs, the brain is affected in 10 of the 11 known congenital disorders of N-linked glycosylation, mostly to a severe degree. Because a large number of enzymes, transporters and other proteins are involved in glycosylation (both N-linked and O-linked), it is expected that the great majority of congenital disorders of glycosylation (CDG) are yet to be identified. Many neurological patients with a CDG escape diagnosis for that reason, but also because existing screening methods fail to detect all patients with a known CDG. These disorders should be looked for in any patient, regardless of age, with an unexplained neurological disorder.
URI: 
ISSN: 1350-7540
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Section Child - Miscellaneous (-)
Brain & Metabolism Section (-)
× corresponding author
# (joint) last author

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