Publicacións en colaboración con investigadores/as de Instituto de Investigación Sanitaria Biobizkaia (3)

2018

  1. New CTSA mutation in early infantile galactosialidosis

    Pediatrics International

2016

  1. Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

    Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1

  2. Molecular epidemiology, genotype-phenotype correlation and BH 4 responsiveness in Spanish patients with phenylketonuria

    Journal of Human Genetics, Vol. 61, Núm. 8, pp. 731-744