Publicaciones en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (2)

2018

  1. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

    Journal of Inherited Metabolic Disease

2013

  1. Clinical manifestations in female carriers of mucopolysaccharidosis type II: A spanish cross-sectional study

    Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1