What's new in congenital disorders of glycosylation?

European Journal of Paediatric Neurology

Volumn 4, Issue 4, 2000, Pages 163-167

  Jaeken, Jaak ^a   Carchon, Hubert ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOHYDRATE; GLYCAN; GLYCOCONJUGATE; N ACETYLGLUCOSAMINYLTRANSFERASE; PHOSPHOMANNOMUTASE; TRANSFERRIN;

ARTICLE; ATAXIA; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; DISEASE CLASSIFICATION; ENDOPLASMIC RETICULUM; ENZYME DEFICIENCY; GLYCOSYLATION; GOLGI COMPLEX; HUMAN; HYPOREFLEXIA; MUSCLE HYPOTONIA; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; STRABISMUS;

EID: 0033854833     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1053/ejpn.2000.0292     Document Type: Review

References (35)

1. Familial psychomotor retardation with markedly fluctuating serum proteins, FSH and GH levels, partial TBG deficiency, increased serum arylsulphatase A and increased CSF protein: A new syndrome?
2. Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG
3. Carbohydrate-deficient glycoconjugate (CDG) syndromes: A new chapter of neuropaediatrics
4. Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)
5. Carbohydrate-deficient glycoprotein syndromes: Inborn errors of protein glycosylation
6. Screening for 'prelysosomal disorders': Carbohydrate-deficient glycoprotein syndromes
7. Congenital disorders of glycosylation
8. CDG: Beyond the screen
9. Phosphomannomutase deficiency: The molecular basis of the classical Jaeken syndrome (CDGS type Ia)
10. Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type IA
11. Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of hosphomannomutase 2
12. Carbohydrate-deficient glycoprotein syndrome type 1b Phosphomannose isomerase deficiency and mannose therapy
13. A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency
14. Phosphomannose isomerase deficiency: A carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation
15. Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose
16. A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide
17. 2-PP-dolichol glucosyltransferase
18. A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic
19. Clinical, biochemical and molecular delineation of a new subtype of carbohydrate deficient glycoprotein syndrome: CDGS type Ic
20. The dolichol pathway of N-linked glycosylation
21. Carbohydrate-deficient glycoprotein syndrome - A fourth subtype
22. 2-PP-dolichylmannosyltransferase
23. Deficiency in dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie
24. Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)
25. Defective intracellular activity of GDP-D-mannose-4,6-dehydratase in leukocyte adhesion deficiency type II syndrome
26. Carbohydrate-deficient glycoprotein syndrome type II
27. Carbohydrate-deficient glycoprotein syndrome type 2
28. Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism
29. Decreased availability of GDP-L-fucose in a patient with LAD II with normal GDP-D-mannose dehydratase and FX protein activities
30. A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the Golgi
31. Human glycosylation disorders and sugar supplement therapy
32. Carbohydrate-deficient glycoprotein syndrome type I with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities
33. A neurodystrophic syndrome resembling carbohydrate-deficient glycoprotein syndrome type III
34. Molecular basis for the progeroid variant of Ehlers-Danlos syndrome - Identification and characterization of two mutations in galactosyltransferase I gene
35. β-Trace protein in human cerebrospinal fluid: A diagnostic marker for N-glycosylation defects in brain