Congenital disorder of glycosylation (PMM2-CDG) in a patient with antithrombin deficiency and severe thrombophilia
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/jth.12031/fullpdf
Reference13 articles.
1. Inherited antithrombin deficiency causing thrombophilia;Egeberg;Thromb Diath Haemorrh,1965
2. A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q;Heit;J Thromb Haemost,2012
3. Thrombosis from a prothrombin mutation conveying antithrombin resistance;Miyawaki;N Engl J Med,2012
4. X-linked thrombophilia with a mutant factor IX (factor IX Padua);Simioni;N Engl J Med,2009
5. Regulatory regions of SERPINC1 gene: identification of the first mutation associated with antithrombin deficiency;de la Morena-Barrio;Thromb Haemost,2012
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1. Hemostatic defects in congenital disorders of glycosylation;Research and Practice in Thrombosis and Haemostasis;2023-03
2. Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies;Glycobiology;2021-08-18
3. Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience;The Journal of Pediatrics;2021-04
4. Antithrombin deficiency as a still underdiagnosed thrombophilia: a primer for internists;Polish Archives of Internal Medicine;2020-05-19
5. Multifactorial hypercoagulable state associated with a thrombotic phenotype in phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG): Case report and brief review of the literature;Thrombosis Research;2019-06
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