Publikationen in Zusammenarbeit mit Forschern von Universitat Autònoma de Barcelona (4)

2022

  1. Genetic diagnosis of basal ganglia disease in childhood

    Developmental Medicine and Child Neurology, Vol. 64, Núm. 6, pp. 743-752

2019

  1. Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

    Annals of Neurology, Vol. 86, Núm. 2, pp. 293-303

2018

  1. Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

    Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1

  2. Protocolo de diagnóstico y tratamiento de los trastornos del ciclo de la urea

    Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 1-26