Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications

Journal of Inherited Metabolic Disease

Volumn 24, Issue 4, 2001, Pages 477-492

  Van Geet, C ^a   Jaeken, J ^b   Freson, K ^a   Lenaerts, T ^a   Arnout, J ^a   Vermylen, J ^a   Hoylaerts, M F ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; FIBRINOGEN RECEPTOR; GALACTOSE; GLYCOPROTEIN IB; PLANT LECTIN; RISTOCETIN; SIALIDASE; VON WILLEBRAND FACTOR;

ANTICOAGULATION; ARTICLE; BLEEDING TENDENCY; BLOOD VESSEL WALL; CELL INTERACTION; CLINICAL ARTICLE; CONGENITAL DISORDER; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; FLOW CYTOMETRY; GLYCOSYLATION; HEMOSTASIS; HUMAN; HUMAN CELL; LECTIN BINDING; PERFUSION; PROTEIN BINDING; PROTEIN INTERACTION; RICINUS COMMUNIS; SHEAR RATE; THROMBOCYTE ADHESION; THROMBOCYTE AGGLUTINATION; THROMBOCYTE AGGREGATION; THROMBOCYTE RICH PLASMA; THROMBOSIS;

BLOOD PLATELETS; CELL MEMBRANE; CONCANAVALIN A; GLYCOSYLATION; HEMORHEOLOGY; HEMOSTASIS; HUMANS; LECTINS; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; NEURAMINIDASE; PERFUSION; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); PLATELET AGGREGATION; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; PLATELET MEMBRANE GLYCOPROTEINS; WHEAT GERM AGGLUTININS;

EID: 0034819780     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1010581613821     Document Type: Article

References (18)

1. A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide
2. Carbohydrate-deficient glycoprotein syndrome type II. An autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive (HEMPAS)
3. Platelet GP Ib-V-IX complex
4. Recurrent arterial thrombosis linked to autoimmune antibodies enhancing von Willebrand factor binding to platelets and inducing Fc gamma RII receptor-mediated platelet activation
5. Deficiency in dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie
6. The carbohydrate-deficient glycoprotein syndromes: An overview
7. The carbohydrate-deficient glycoprotein syndrome: A new inherited multisystemic disease with severe nervous system involvement
8. The carbohydrate-deficient glycoprotein syndromes: Pre-Golgi and Golgi disorders?
9. Carbohydrate-deficient glycoprotein syndrome type II
10. Carbohydrate deficient glycoprotein syndrome type II: A deficiency in Golgi localised N-acetyl-glucosaminyltransferase II
11. Carbohydrate-deficient glycoprotein syndrome. Type II: An autosomal recessive disease due to mutations in the N-acetylglucosaminyltransferase II gene
12. Carbohydrate deficient glycoprotein syndrome type IV: Deficiency of dolichol-P-Man:Man5GlcNAc2-PP-dolichylmannosyltransferase
13. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type 1 syndrome (Jaeken syndrome)
14. Fine structural and functional consequences of deglycosylation of the platelet adhesion receptor GP Ib-IX (CD 42b)
15. Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development
16. A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome
17. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type 1
18. Antagonism of vWF inhibits both injury induced arterial and venous thrombosis in the hamster