Publicaciones en colaboración con investigadores/as de Hospitais da Universidade de Coimbra (6)

2017

  1. Defects of splicing in antithrombin deficiency

    Research and Practice in Thrombosis and Haemostasis, Vol. 1, Núm. 2, pp. 216-222

2016

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

    Thrombosis and Haemostasis, Vol. 116, Núm. 1, pp. 146-154

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

    Journal of Thrombosis and Haemostasis, Vol. 14, Núm. 8, pp. 1549-1560

2014

  1. Proteomic analysis of platelet N-glycoproteins in PMM2-CDG patients

    Thrombosis Research, Vol. 133, Núm. 3, pp. 412-417

2013

  1. GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients

    Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1

2012

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

    Journal of Thrombosis and Haemostasis