Congenital disorders of glycosylation: Rapidly enlarging group of (neuro)metabolic disorders
- 31 December 2007
- journal article
- Published by Elsevier BV in Early Human Development
- Vol. 83 (12), 825-830
- https://doi.org/10.1016/j.earlhumdev.2007.09.016
Abstract
No abstract availableKeywords
This publication has 17 references indexed in Scilit:
- Congenital Disorders of Glycosylation: A Rapidly Expanding Disease FamilyAnnual Review of Genomics and Human Genetics, 2007
- Genetic defects in the human glycomeNature Reviews Genetics, 2006
- A Deficiency in Dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl α3-Glucosyltransferase Defines a New Subtype of Congenital Disorders of GlycosylationPublished by Elsevier BV ,2003
- Congenital Disorders of GlycosylationAnnual Review of Genomics and Human Genetics, 2001
- High Residual Activity of PMM2 in Patients’ Fibroblasts: Possible Pitfall in the Diagnosis of CDG-Ia (Phosphomannomutase Deficiency)American Journal of Human Genetics, 2001
- Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesisAnnals of Neurology, 2000
- A Novel Disorder of N-Glycosylation Due to Phosphomannose Isomerase DeficiencyBiochemical and Biophysical Research Communications, 1998
- Biological roles of oligosaccharides: all of the theories are correctGlycobiology, 1993
- ASSEMBLY OF ASPARAGINE-LINKED OLIGOSACCHARIDESAnnual Review of Biochemistry, 1985
- Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90Pediatric Research, 1980