Publikationen in Zusammenarbeit mit Forschern von KU Leuven (7)

2021

  1. Antithrombin pThr147Ala: The First Founder Mutation in People of African Origin Responsible for Inherited Antithrombin Deficiency

    Thrombosis and Haemostasis, Vol. 121, Núm. 2, pp. 182-191

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

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

  2. Natural killer cell receptors and cytotoxic activity in phosphomannomutase 2 deficiency (PMM2-CDG)

    PLoS ONE, Vol. 11, Núm. 7

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