Publicaciones en colaboración con investigadores/as de Complejo Hospitalario Universitario Insular - Materno Infantil de Canarias (3)

2024

  1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

2022

  1. Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

    Journal of Clinical Medicine, Vol. 11, Núm. 17

2018

  1. Computerized registry of patients with hemorrhagic hereditary telangiectasia (RiHHTa Registry) in Spain: Objectives, methods, and preliminary results

    Revista Clinica Espanola, Vol. 218, Núm. 9, pp. 468-476