Publicaciones en colaboración con investigadores/as de Hospital Clinic Barcelona (3)

2019

  1. Diagnóstico bioquímico y genético en las enfermedades metabólicas hereditarias

    Manual de pediatría (Ergon), pp. 669-672

2014

  1. Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

    Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1

  2. The early detection of Salla disease through second-tier tests in newborn screening: How to face incidental findings

    European Journal of Medical Genetics, Vol. 57, Núm. 9, pp. 527-531