Publicaciones en colaboración con investigadores/as de Necker-Enfants Malades Hospital (3)

2020

  1. Factor XII in PMM2-CDG patients: Role of N-glycosylation in the secretion and function of the first element of the contact pathway

    Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1

2019

  1. Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies

    Journal of Thrombosis and Haemostasis, Vol. 17, Núm. 11, pp. 1798-1807

  2. 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