Publicacións en colaboración con investigadores/as de Hospital Vall d'Hebron (3)

2012

  1. Genotypic and phenotypic features of McArdle disease: Insights from the Spanish national registry

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 83, Núm. 3, pp. 322-328

2010

  1. Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type II

    Journal of Inherited Metabolic Disease, Vol. 33, Núm. SUPPL. 3

2002

  1. Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)

    Neuromuscular Disorders, Vol. 12, Núm. 2, pp. 159-166