Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect

Autor: de la Morena‐Barrio, M.E., Martínez‐Martínez, I., de Cos, C., Wypasek, E., Roldán, V., Undas, A., van Scherpenzeel, M., Lefeber, D.J., Toderici, M., Sevivas, T., España, F., Jaeken, J., Corral, J. ^*, Vicente, V.

Publikováno v: In Journal of Thrombosis and Haemostasis August 2016 14(8):1549-1560

Update on Molecular Testing in von Willebrand Disease

Autor: Batlle, J, Perez-Rodriguez, A, Corrales, I, Borras, N, Pinto, JC, Lopez-Fernandez, MF, Vidal, F, Cid, AR, Bonanad, S, Parra, R, Mingot-Castellano, ME, Navarro, N, Altisent, C, Perez-Montes, R, Marcellini, S, Moreto, A, Herrero, S, Soto, I, Bernardo-Gutierrez, A, Mosteirin, NF, Jimenez-Yuste, V, Alonso, N, Jacob, AD, Fontanes, E, Campos, R, Paloma, MJ, Bermejo, N, Berrueco, R, Mateo, J, Arribalzaga, K, Marco, P, Palomo, A, Quismondo, NC, Inigo, B, Nieto, MD, Vidal, R, Martinez, MP, Aguinaco, R, Tenorio, M, Ferreiro, M, Garcia-Frade, J, Rodriguez-Huerta, AM, Cuesta, J, Rodriguez-Gonzalez, R, Garcia-Candel, F, Dobon, M, Aguilar, C, Bastida, JM, Nunez, R, Aguirre, MA, Rodriguez-Luaces, M, Gordillo, M, de Cos, C, Torres, L, Batlle, F, PCM-EVW-ES Investigators Team

Publikováno v: SEMINARS IN THROMBOSIS AND HEMOSTASIS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Diagnosis of von Willebrand disease (VWD) depends on personal and family history of bleeding and confirmatory laboratory testing. Currently available phenotypic tests for VWD contain potential sources for error that may distort results. Despite an ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::1a0a0f43f3b197384952fc4be42c1d84
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=14316

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Antithrombin Dublin (p.Val30Glu): a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency

Autor: Navarro-Fernandez J, Me, La Morena-Barrio, Padilla J, Miñano A, Bohdan N, Águila S, Irene Martínez-Martínez, Ts, Sevivas, de Cos C, Fernández-Mosteirín N, Llamas P, Asenjo S, Medina P, Jc, Souto, Overvad K, Sr, Kristensen, Corral J, Vicente V

Publikováno v: Europe PubMed Central
THROMBOSIS AND HAEMOSTASIS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

The key haemostatic role of antithrombin and the risk of thrombosis associated with its deficiency support that the low incidence of antithrombin deficiency among patients with thrombosis might be explained by underestimation of this disorder. It was

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::cd70dd7bda8c7b1043c2d17e349af87c
http://europepmc.org/abstract/med/27098529