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-Reference-Cited by-同舟云学术

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

Published:2019-06 Issue: Volume:178 Page:75-78
ISSN:0049-3848
Container-title:Thrombosis Research
language:en
Short-container-title:Thrombosis Research

Author:

Lefrère Bertrand,Stepanian Alain,Charles Perrine,Foulon-Pinto Geoffrey,Béranger Nicolas,Alhenc-Gelas Martine,Drouet Ludovic,Siguret Virginie^ORCID

Publisher

Elsevier BV

Subject

Hematology

Reference11 articles.

1. Congenital disorders of glycosylation: quo vadis?;Péanne;Eur. J. Med. Genet.,2018

2. Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia;Arnoux;Mol. Genet. Metab.,2008

3. Congenital disorder of glycosylation (PMM2-CDG) in a patient with antithrombin deficiency and severe thrombophilia;De la Morena-Barrio;J. Thromb. Haemost.,2012

4. Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides;Haeuptle;Hum. Mutat.,2009

5. Thrombotic complications in patients with PMM2-CDG;Linssen;Mol. Genet. Metab.,2013

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1. Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management;Molecular Genetics and Metabolism;2023-11

2. Hemostatic defects in congenital disorders of glycosylation;Research and Practice in Thrombosis and Haemostasis;2023-03

3. Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes;Pediatric Nephrology;2021-02-13

4. Congenital disorders of glycosylation as an unusual cause of antithrombin deficiency and elevated thrombin generation;Pediatric Blood & Cancer;2019-11-17