Publications en collaboration avec des chercheurs de Instituto de Investigación Sanitaria Hospital 12 de Octubre (2)

2022

  1. Effectiveness and safety of the treatment of lysosomal deposit diseases: Analysis of 22 patients

    Medicina Clinica, Vol. 159, Núm. 8, pp. 380-384

  2. First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL

    Human Mutation, Vol. 43, Núm. 10, pp. 1361-1367