Publicaciones en colaboración con investigadores/as de Hospital Universitari Germans Trias i Pujol (4)

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. Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry

    Frontiers in Immunology, Vol. 13

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

2012

  1. Estudio de estabilidad de las concentraciones de cortisol, 25-hidroxivitamina D y corticotropina (ACTH)

    Revista del Laboratorio Clinico, Vol. 5, Núm. 2, pp. 68-74