Publicaciones en colaboración con investigadores/as de Radboud University Nijmegen Medical Centre (7)

2019

  1. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 5-28

2017

  1. Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy

    Scientific Reports, Vol. 7

2016

  1. 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

2015

  1. Development and Validation of a Risk Score for Chronic Kidney Disease in HIV Infection Using Prospective Cohort Data from the D:A:D Study

    PLoS Medicine, Vol. 12, Núm. 3

2012

  1. Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism

    Journal of the American College of Cardiology, Vol. 60, Núm. 8, pp. 722-729

2010

  1. Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

    Nature Genetics, Vol. 42, Núm. 8, pp. 692-697

2003

  1. The -1C>T mutation in the annexin A5 gene does not affect plasma levels of annexin A5 [2] (multiple letters)

    Blood