Publicacións en colaboración con investigadores/as de Hospital Universitario de Cruces (16)

2022

  1. Macroprolactin: From laboratory to clinical practice

    Endocrinologia, Diabetes y Nutricion, Vol. 69, Núm. 1, pp. 63-69

2018

  1. Carbohydrate status in patients with phenylketonuria

    Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1

  2. New CTSA mutation in early infantile galactosialidosis

    Pediatrics International

2017

  1. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

    Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360

2013

  1. Risk factors for developing mineral bone disease in phenylketonuric patients

    Molecular Genetics and Metabolism, Vol. 108, Núm. 3, pp. 149-154