Publicaciones en colaboración con investigadores/as de Complejo Hospitalario Universitario Insular - Materno Infantil de Canarias (5)

2022

  1. Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism

    International Journal of Molecular Sciences, Vol. 23, Núm. 21

  2. Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

    Journal of Clinical Medicine, Vol. 11, Núm. 17

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

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

  3. Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment

    Journal of Clinical Medicine, Vol. 8, Núm. 11