Congenital disorder of glycosylation (PMM2-CDG) in a patient with antithrombin deficiency and severe thrombophilia

被引:15
作者
de la Morena-Barrio, M. E. [1 ]
Sevivas, T. S. [2 ]
Martinez-Martinez, I. [1 ]
Minano, A. [1 ]
Vicente, V. [1 ]
Jaeken, J. [3 ]
Corral, J. [1 ]
机构
[1] Univ Murcia, Ctr Reg Hemodonac, Murcia 30003, Spain
[2] Ctr Hosp Coimbra, Dept Hematol, Coimbra, Portugal
[3] Univ Ziekenhuis Gasthuisberg, Ctr Metab Dis, Louvain, Belgium
关键词
IA;
D O I
10.1111/jth.12031
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
de la Morena-Barrio ME, Sevivas TS, Martinez-Martinez I, Minano A, Vicente V, Jaeken J, Corral J. Congenital disorder of glycosylation (PMM2-CDG) in a patient with antithrombin deficiency and severe thrombophilia. J Thromb Haemost 2012; 10: 26257.
引用
收藏
页码:2625 / 2627
页数:3
相关论文
共 14 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]   Deficiencies of antithrombin, protein C and protein S - Practical experience in genetic analysis of a large patient cohort [J].
Caspers, Michael ;
Pavlova, Anna ;
Driesen, Julia ;
Harbrecht, Ursula ;
Klamroth, Robert ;
Kadar, Janos ;
Fischer, Ronald ;
Kemkes-Matthes, Bettina ;
Oldenburg, Johannes .
THROMBOSIS AND HAEMOSTASIS, 2012, 108 (02) :247-257
[3]   INHERITED ANTITHROMBIN DEFICIENCY CAUSING THROMBOPHILIA [J].
EGEBERG, O .
THROMBOSIS ET DIATHESIS HAEMORRHAGICA, 1965, 13 (3-4) :516-&
[4]   Regulatory regions of SERPINC1 gene: Identification of the first mutation associated with antithrombin deficiency [J].
Eugenia de la Morena-Barrio, Maria ;
Isabel Anton, Ana ;
Martinez-Martinez, Irene ;
Padilla, Jose ;
Minano, Antonia ;
Navarro-Fernandez, Jose ;
Aguila, Sonia ;
Fernanda Lopez, Maria ;
Fontcuberta, Jordi ;
Vicente, Vicente ;
Corral, Javier .
THROMBOSIS AND HAEMOSTASIS, 2012, 107 (03) :430-437
[5]   High residual activity of PMM2 in patients' fibroblasts:: Possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency) [J].
Grünewald, S ;
Schollen, E ;
Van Schaftingen, E ;
Jaeken, J ;
Matthijs, G .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (02) :347-354
[6]   A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q [J].
Heit, J. A. ;
Armasu, S. M. ;
Asmann, Y. W. ;
Cunningham, J. M. ;
Matsumoto, M. E. ;
Petterson, T. M. ;
De Andrade, M. .
JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2012, 10 (08) :1521-1531
[7]   Congenital disorders of glycosylation (CDG): it's (nearly) all in it! [J].
Jaeken, Jaak .
JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 (04) :853-858
[8]   Type II antithrombin deficiency caused by a large in-frame insertion: structural, functional and pathological relevance [J].
Martinez-Martinez, I. ;
Johnson, D. J. D. ;
Yamasaki, M. ;
Navarro-Fernandez, J. ;
Ordonez, A. ;
Vicente, V. ;
Huntington, J. A. ;
Corral, J. .
JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2012, 10 (09) :1859-1866
[9]   Structure of β-antithrombin and the effect of glycosylation on antithrombin's heparin affinity and activity [J].
McCoy, AJ ;
Pei, XY ;
Skinner, R ;
Abrahams, JP ;
Carrell, RW .
JOURNAL OF MOLECULAR BIOLOGY, 2003, 326 (03) :823-833
[10]   Thrombosis from a Prothrombin Mutation Conveying Antithrombin Resistance [J].
Miyawaki, Yuhri ;
Suzuki, Atsuo ;
Fujita, Junko ;
Maki, Asuka ;
Okuyama, Eriko ;
Murata, Moe ;
Takagi, Akira ;
Murate, Takashi ;
Kunishima, Shinji ;
Sakai, Michio ;
Okamoto, Kohji ;
Matsushita, Tadashi ;
Naoe, Tomoki ;
Saito, Hidehiko ;
Kojima, Tetsuhito .
NEW ENGLAND JOURNAL OF MEDICINE, 2012, 366 (25) :2390-2396