Congenital Disorders of Glycosylation: Glycosylation Defects in Man and Biological Models for Their Study
- 12 January 2001
- journal article
- review article
- Published by Walter de Gruyter GmbH in Biological Chemistry
- Vol. 382 (2) , 161-77
- https://doi.org/10.1515/bc.2001.024
Abstract
Several inherited disorders affecting the biosynthetic pathways of N-glycans have been discovered during the past years. This review summarizes the current knowledge in this rapidly expanding field and covers the molecular bases of these disorders as well as their phenotypical consequences.Keywords
This publication has 152 references indexed in Scilit:
- β-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brainBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1999
- Human Glycosylation Disorders and Sugar Supplement TherapyBiochemical and Biophysical Research Communications, 1999
- A Functional Link between N-Linked Glycosylation and Apoptosis in Chinese Hamster Ovary CellsBiochemical and Biophysical Research Communications, 1998
- A Novel Disorder of N-Glycosylation Due to Phosphomannose Isomerase DeficiencyBiochemical and Biophysical Research Communications, 1998
- The α(1,3)Fucosyltransferase Fuc-TVII Controls Leukocyte Trafficking through an Essential Role in L-, E-, and P-selectin Ligand BiosynthesisCell, 1996
- Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type IFEBS Letters, 1995
- Early manifestations of the carbohydrate-deficient glycoprotein syndromeThe Journal of Pediatrics, 1993
- Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate‐deficient glycoprotein syndromeJournal of Inherited Metabolic Disease, 1992
- The carbohydrate deficient glycoprotein syndrome in three Japanese childrenBrain & Development, 1992
- A new variant of the carbohydrate deficient glycoproteins syndromeJournal of Inherited Metabolic Disease, 1991