Publicaciones en colaboración con investigadores/as de Hospital Universitario La Paz (5)

2024

  1. Women with Gaucher Disease

    Biomedicines, Vol. 12, Núm. 3

2022

  1. Diagnostic and follow-up protocol for adult patients with neurofibromatosis type 1 in a Spanish reference unit

    Revista Clinica Espanola, Vol. 222, Núm. 8, pp. 486-495

  2. Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients

    Nutrients, Vol. 14, Núm. 13

2021

  1. Novel molecular targeted therapies for patients with neurofibromatosis type 1 with inoperable plexiform neurofibromas: a comprehensive review

    ESMO open, Vol. 6, Núm. 4, pp. 100223

2006

  1. Cerebellar ataxia of Norman-Jaeken. Presentation of seven Spanish patients

    Revista de Neurologia, Vol. 42, Núm. 12, pp. 723-728