Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (2)

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

    PLoS ONE, Vol. 11, Núm. 7