Publicaciones en colaboración con investigadores/as de Hospital Universitario 12 de Octubre (9)

2024

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

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

2023

  1. Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)

    European Journal of Clinical Nutrition

2022

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

    Frontiers in Immunology, Vol. 13

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

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

  3. Vitamin C and folate status in hereditary fructose intolerance

    European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739

2021

  1. El cribado metabólico del recién nacido como modelo asistencial de la medicina de precisión. Perspectiva desde la Asociación Española para el Estudio de los Errores Congénitos del Metabolismo (AECOM)

    Revista espanola de salud publica, Vol. 95

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

2018

  1. Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature

    Molecular Genetics and Metabolism, Vol. 124, Núm. 3, pp. 216-227

2016

  1. Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso

    Medicina Clinica, Vol. 147, Núm. 11, pp. 506.e1-506.e7