Publications in collaboration with researchers from Complexo Hospitalario Universitario de Santiago (2)

2018

  1. Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy Case report

    Medicine (United States), Vol. 97, Núm. 42

2012

  1. Guía clínica de la enfermedad de pompe de inicio tardío

    Revista de Neurologia, Vol. 54, Núm. 8, pp. 497-507