Publicaciones en colaboración con investigadores/as de Universitat Autònoma de Barcelona (2)

2022

  1. Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency

    Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 340

2015

  1. Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study

    European Journal of Pediatrics, Vol. 174, Núm. 10, pp. 1373-1385