Publicaciones en colaboración con investigadores/as de Hospital General Universitario Gregorio Marañón (7)

2022

  1. Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

    JIMD Reports, Vol. 63, Núm. 2, pp. 146-161

2020

  1. Análisis de casos positivos de cribado neonatal de errores congénitos del metabolismo en la Comunidad de Madrid

    Revista espanola de salud publica, Vol. 94

2019

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

    Scientific Reports, Vol. 9, Núm. 1

2018

  1. Four years’ experience in the diagnosis of very long-chain acyl-coa dehydrogenase deficiency in infants detected in three spanish newborn screening centers

    JIMD Reports (Springer), pp. 63-74

2017

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

    Scientific Reports, Vol. 7, Núm. 1

2011

  1. Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation

    Headache, Vol. 51, Núm. 10, pp. 1542-1546

2005

  1. Macrophagic myofasciitis in childhood: A controversial entity

    Pediatric Neurology, Vol. 33, Núm. 5, pp. 350-356