Publicaciones en colaboración con investigadores/as de Hospital Infantil Universitario Niño Jesus de Madrid (4)

2018

  1. Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG

    Neuropediatrics, Vol. 49, Núm. 6, pp. 408-413

  2. Stroke-like episodes and cerebellar syndrome in phosphomannomutase deficiency (PMM2-CDG): Evidence for hypoglycosylation-driven channelopathy

    International Journal of Molecular Sciences, Vol. 19, Núm. 2

2013

  1. Guía de prá ctica clínica para el tratamiento del síndrome de Hunter

    Medicina Clinica, Vol. 141, Núm. 10

2010

  1. First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: Case observations from the Hunter Outcome Survey (HOS)

    European Journal of Medical Genetics, Vol. 53, Núm. 6, pp. 371-377