Publications in collaboration with researchers from Hospital Universitario Reina Sofia (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

  2. Proceedings of the 5th Meeting of Translational Hepatology, organized by the Spanish Association for the Study of the Liver (AEEH)

    Gastroenterologia y Hepatologia

2017

  1. Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

    Scientific Reports, Vol. 7, Núm. 1