Publicaciones en colaboración con investigadoras/es de Hospital Universitario La Paz (3)

2020

  1. New variants in Spanish Niemann–Pick type c disease patients

    Molecular Biology Reports, Vol. 47, Núm. 3, pp. 2085-2095

2019

  1. Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain

    Medicine (United States), Vol. 98, Núm. 39

2017

  1. Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management

    Medicina Clinica, Vol. 148, Núm. 9, pp. 429.e1-429.e10