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J Inherit Metab Dis. 2004;27(3):423-6.

Congenital disorders of glycosylation (CDG): update and new developments.

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1
Department of Pediatrics, University Hospital Gasthuisberg, Leuven, Belgium.

Abstract

After a brief overview on CDG, this workshop concentrated on the experience with (mostly) known CDG in a European country (the Czech Republic) and on the Australasian experience, on recent developments regarding congenital muscular dystrophies due to O-mannoslyglycan assembly defects, and on new presentations of CDG. It was concluded that we are still at the beginning of 'explosive' research on CDG and that we need to apply new and known technologies to the diagnosis, understanding of pathophysiology, and treatment of CDG.

PMID:
15272470
[Indexed for MEDLINE]
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