Publicacións en colaboración con investigadores/as de Hospital Clinic Barcelona (4)

2021

  1. Cribado neonatal del hipotiroidismo congénito

    Revista espanola de salud publica, Vol. 95

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

2011

  1. Relevance of expanded neonatal screening of medium-chain Acyl Co-A dehydrogenase deficiency: Outcome of a decade in Galicia (Spain)

    Journal of Inherited Metabolic Disease, Vol. 1, pp. 131-136