Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications
Author:
Affiliation:
1. ; Department of Paediatrics; University Hospital Gasthuisberg; Belgium
2. ; Centre for Molecular and Vascular Biology; University of Leuven; Leuven Belgium
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1010581613821/fullpdf
Reference18 articles.
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2. Carbohydrate-deficient glycoprotein syndrome type II. An autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS);Charuk;Eur J Biochem,1995
3. Platelet GP Ib-V-IX complex;Clemetson;Thromb Haemost,1997
4. Recurrent arterial thrombosis linked to autoimmune antibodies enhancing von Willebrand factor binding to platelets and inducing Fc gamma RII receptor-mediated platelet activation;Hoylaerts;Blood,1998
5. Deficiency in dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie;Imbach;J Clin Invest,2000
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