Publicacións en colaboración con investigadores/as de Hospital General de Niños Ricardo Gutierrez (3)

2022

  1. Galactose epimerase deficiency: lessons from the GalNet registry

    Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 331

2012

  1. Diversity of approaches to classic galactosemia around the world: A comparison of diagnosis, intervention, and outcomes

    Journal of Inherited Metabolic Disease, Vol. 35, Núm. 6, pp. 1037-1049

  2. Erratum: Diversity of approaches to classic galactosemia around the world: A comparison of diagnosis, intervention, and outcomes (J Inherit Metab Dis DOI 10.1007/s10545-012-9477-y)

    Journal of Inherited Metabolic Disease