Publications in collaboration with researchers from 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