Journal of Inherited Metabolic Disease

, Volume 27, Issue 3, pp 423–426

Congenital disorders of glycosylation (CDG): Update and new developments

Authors

  • J. Jaeken
    • Department of Pediatrics, Centre for Metabolic DiseaseUniversity Hospital Gasthuisberg
Article

DOI: 10.1023/B:BOLI.0000031221.44647.9e

Cite this article as:
Jaeken, J. J Inherit Metab Dis (2004) 27: 423. doi:10.1023/B:BOLI.0000031221.44647.9e

Abstract

Summary: 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-mannosylglycan 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.

Copyright information

© Kluwer Academic Publishers 2004