Publikationen in Zusammenarbeit mit Forschern von Hospital Vall d'Hebron (5)

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

  2. Unhealthy food advertising. A position paper by the AEP Committee on nutrition and breastfeeding

    Anales de Pediatria, Vol. 97, Núm. 3, pp. 206.e1-206.e9

2016

  1. Clinical and genetic characterization of congenital hyperinsulinism in Spain

    European Journal of Endocrinology, Vol. 174, Núm. 6, pp. 717-726

2015

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

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

2014

  1. Una nueva mutación en el gen GLDC en la hiperglicinemia no cetósica

    Anales de Pediatria