Publications en collaboration avec des chercheurs de Hospital de Cruces (6)

2022

  1. Pearls & Oy-sters: Challenges and Controversies in Wilson Disease

    Neurology, Vol. 99, Núm. 6, pp. 251-255

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

  2. Reply

    Revista de Neurologia

2017

  1. Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals

    Molecular Genetics and Metabolism Reports, Vol. 10, pp. 92-95

  2. Treatment of encephalopathy by means of valproic acid with carglumic acid: Two case reports and a review of the literature

    Revista de Neurologia, Vol. 65, Núm. 9, pp. 409-414

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