Publicaciones en colaboración con investigadores/as de Hospital Clinic Barcelona (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

2015

  1. Cholestane-3β,5α,6β-triol: High levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency

    Journal of Lipid Research, Vol. 56, Núm. 10, pp. 1926-1935