Title: The skeletal manifestations of the congenital disorders of glycosylation
Authors: Coman, D ×
Irving, M
Kannu, P
Jaeken, Jaak
Savarirayan, R #
Issue Date: Jun-2008
Publisher: Wiley-Blackwell Publishing, Inc.
Series Title: Clinical Genetics vol:73 issue:6 pages:507-15
Abstract: The congenital disorders of glycosylation (CDG) are a rapidly expanding disease group with protean presentations. Specific end-organ involvement leads to significant morbidity and mortality, and the skeletal manifestations are often not appreciated, apart from the common association of osteopaenia with CDG-Ia. We performed a literature review of all documented skeletal manifestations in reported CDG patients, revealing a diverse range of skeletal phenotypes. We discuss the possible underlying mechanisms of these skeletal manifestations observed in CDG that are important and frequently under-recognized.
ISSN: 0009-9163
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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