Publicaciones en colaboración con investigadores/as de Hospital Universitario Nuestra Señora de Candelaria (5)

2019

  1. Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

    Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626

  2. X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

    Scientific Reports, Vol. 9, Núm. 1

2017

  1. The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

    Scientific Reports, Vol. 7, Núm. 1

2010

  1. Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: A case series

    Molecular Genetics and Metabolism, Vol. 99, Núm. 4, pp. 358-366

2009

  1. Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

    Human Mutation, Vol. 30, Núm. 11, pp. 1558-1566