Publicacións en colaboración con investigadores/as de Hospital Vall d'Hebron (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

2021

  1. Leigh syndrome associated with TRMU gene mutations

    Molecular Genetics and Metabolism Reports, Vol. 26

2019

  1. Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders

    Journal of pharmaceutical and biomedical analysis, Vol. 176, pp. 112798