Congenital disorders of glycosylation (CDG): Update and new developments
- 1 May 2004
- journal article
- review article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 27 (3), 423-426
- https://doi.org/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.Keywords
This publication has 7 references indexed in Scilit:
- Diagnosis of Congenital Disorders of Glycosylation by Capillary Zone Electrophoresis of Serum TransferrinClinical Chemistry, 2004
- Carbohydrate-deficient glycoprotein syndrome 1b: A new answer to an old diagnostic dilemmaJournal of Paediatrics and Child Health, 2001
- Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complicationsJournal of Inherited Metabolic Disease, 2001
- Carbohydrate‐deficient glycoprotein syndrome: Beyond the screenJournal of Inherited Metabolic Disease, 2000
- Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.JCI Insight, 1998
- Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type IFEBS Letters, 1995
- Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndromeClinica Chimica Acta; International Journal of Clinical Chemistry, 1984