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

2021

  1. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2013

  1. A new seipin-associated neurodegenerative syndrome

    Journal of Medical Genetics, Vol. 50, Núm. 6, pp. 401-409