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

被引：4

作者：

Lefrere, Bertrand ^{[1
,2
]}

Stepanian, Alain ^{[1
,3
]}

Charles, Perrine ^{[4
,5
]}

Foulon-Pinto, Geoffrey ^{[1
,2
]}

Beranger, Nicolas ^{[1
,3
]}

Alhenc-Gelas, Martine ^{[6
]}

Drouet, Ludovic ^{[1
]}

Siguret, Virginie ^{[1
,2
]}

机构：

[1] Hop Lariboisiere, AP HP, Serv Hematol Biol, Paris, France

[2] Univ Paris 05, INSERM, UMR S1140, Paris, France

[3] Univ Paris Diderot, Hop St Louis, Inst Univ Hematol, EA3518, Paris, France

[4] Univ Paris 06, AP HP, Grp Hosp Pitie Salpetriere, Unite Fonct Neurogenet Mol & Cellulaire,Dept Gene, Paris, France

[5] Univ Paris 06, Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Deficiences Intellectuelles Causes, Paris, France

[6] Hop Europeen Georges Pompidou, AP HP, Serv Hematol Biol, Paris, France

来源：

THROMBOSIS RESEARCH | 2019年 / 178卷

关键词：

CDG; Deep venous thrombosis; Thrombin generation; Fibrinography; von Willebrand factor; PATIENT; IA;

D O I：

10.1016/j.thromres.2019.04.010

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：75 / 78

页数：4

共 11 条

[1] Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia [J].

Arnoux, J. B. ;

Boddaert, N. ;

Valayannopoulos, V. ;

Romano, S. ;

Bahi-Buisson, N. ;

Desguerre, I. ;

de Keyzer, Y. ;

Munnich, A. ;

Brunelle, F. ;

Seta, N. ;

Dautzenberg, M. D. ;

de Lonlay, P. .

MOLECULAR GENETICS AND METABOLISM, 2008, 93 (04) :444-449

[2] Effect of Pre-Analytical Conditions on the Thrombodynamics Assay [J].

Dashkevich, Natalia M. ;

Vuimo, Tatiana A. ;

Ovsepyan, Ruzanna A. ;

Surov, Stepan S. ;

Soshitova, Natalia P. ;

Panteleev, Mikhail A. ;

Ataullakhanov, Fazoil I. ;

Negrier, Claude .

THROMBOSIS RESEARCH, 2014, 133 (03) :472-476

[3] Proteomic analysis of platelet N-glycoproteins in PMM2-CDG patients [J].

de la Morena-Barrio, M. E. ;

Di Michele, M. ;

Lozano, M. L. ;

Rivera, J. ;

Perez-Duenas, B. ;

Altisent, C. ;

Sevivas, T. ;

Vicente, V. ;

Jaeken, J. ;

Freson, K. ;

Corral, J. .

THROMBOSIS RESEARCH, 2014, 133 (03) :412-417

[4] Congenital disorder of glycosylation (PMM2-CDG) in a patient with antithrombin deficiency and severe thrombophilia [J].

de la Morena-Barrio, M. E. ;

Sevivas, T. S. ;

Martinez-Martinez, I. ;

Minano, A. ;

Vicente, V. ;

Jaeken, J. ;

Corral, J. .

JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2012, 10 (12) :2625-2627

[5] Congenital Disorders of Glycosylation: An Update on Defects Affecting the Biosynthesis of Dolichol-Linked Oligosaccharides [J].

Haeuptle, Micha A. ;

Hennet, Thierry .

HUMAN MUTATION, 2009, 30 (12) :1628-1641

[6] Deep venous thrombosis treated by rivaroxaban in a young patient with type Ia carbohydrate-deficient glycoprotein (CDG) syndrome [J].

Lefrere, Bertrand ;

Stepanian, Alain ;

Itzhar-Baikian, Nathalie ;

Charles, Perrine ;

Hadj-Ali, Arezki ;

Joly, Berangere ;

Alhenc-Gelas, Martine ;

Drouet, Ludovic ;

Veyradier, Agnes ;

Siguret, Virginie .

ANNALES DE BIOLOGIE CLINIQUE, 2018, 76 (02) :217-223

[7] Thrombotic complications in patients with PMM2-CDG [J].

Linssen, M. ;

Mohamed, M. ;

Wevers, R. A. ;

Lefeber, D. J. ;

Morava, E. .

MOLECULAR GENETICS AND METABOLISM, 2013, 109 (01) :107-111

[8] 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype [J].

Monin, Marie-Lorraine ;

Mignot, Cyril ;

De Lonlay, Pascale ;

Heron, Benedicte ;

Masurel, Alice ;

Mathieu-Dramard, Michele ;

Lenaerts, Catherine ;

Thauvin, Christel ;

Gerard, Marion ;

Roze, Emmanuel ;

Jacquette, Aurelia ;

Charles, Perrine ;

de Barace, Claire ;

Drouin-Garraud, Valerie ;

Van Kien, Philippe Khau ;

Cormier-Daire, Valerie ;

Mayer, Michele ;

Ogier, Helene ;

Brice, Alexis ;

Seta, Nathalie ;

Heron, Delphine .

ORPHANET JOURNAL OF RARE DISEASES, 2014, 9 :207

[9] Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature [J].

Schiff, Manuel ;

Roda, Celine ;

Monin, Marie-Lorraine ;

Arion, Alina ;

Barth, Magali ;

Bednarek, Nathalie ;

Bidet, Maud ;

Bloch, Catherine ;

Boddaert, Nathalie ;

Borgel, Delphine ;

Brassier, Anais ;

Brice, Alexis ;

Bruneel, Arnaud ;

Buissonniere, Roger ;

Chabrol, Brigitte ;

Chevalier, Marie-Chantal ;

Cormier-Daire, Valerie ;

De Barace, Claire ;

De Maistre, Emmanuel ;

De Saint-Martin, Anne ;

Dorison, Nathalie ;

Drouin-Garraud, Valerie ;

Dupre, Thierry ;

Echenne, Bernard ;

Edery, Patrick ;

Feillet, Francois ;

Fontan, Isabelle ;

Francannet, Christine ;

Labarthe, Francois ;

Gitiaux, Cyril ;

Heron, Delphine ;

Hully, Marie ;

Lamoureux, Sylvie ;

Martin-Coignard, Dominique ;

Mignot, Cyril ;

Morin, Gilles ;

Pascreau, Tiffany ;

Pincemaille, Olivier ;

Polak, Michel ;

Roubertie, Agathe ;

Thauvin-Robinet, Christel ;

Toutain, Annick ;

Viot, Geraldine ;

Vuillaumier-Barrot, Sandrine ;

Seta, Nathalie ;

De Lonlay, Pascale .

JOURNAL OF MEDICAL GENETICS, 2017, 54 (12) :843-851

[10] Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications [J].

Van Geet, C ;

Jaeken, J ;

Freson, K ;

Lenaerts, T ;

Arnout, J ;

Vermylen, J ;

Hoylaerts, MF .

JOURNAL OF INHERITED METABOLIC DISEASE, 2001, 24 (04) :477-492

← 1 2 →