Publicacions en col·laboració amb investigadors/es de University Children's Hospital Zurich (8)

2020

  1. Dietary practices in methylmalonic acidaemia: A European survey

    Journal of Pediatric Endocrinology and Metabolism, Vol. 33, Núm. 1, pp. 147-155

2017

  1. Dietary practices in isovaleric acidemia: A European survey

    Molecular Genetics and Metabolism Reports, Vol. 12, pp. 16-22

  2. Dietary practices in propionic acidemia: A European survey

    Molecular Genetics and Metabolism Reports, Vol. 13, pp. 83-89

  3. Issues with European guidelines for phenylketonuria – Authors' reply

    The Lancet Diabetes and Endocrinology

  4. Key European guidelines for the diagnosis and management of patients with phenylketonuria

    The Lancet Diabetes and Endocrinology, Vol. 5, Núm. 9, pp. 743-756

  5. The complete European guidelines on phenylketonuria: Diagnosis and treatment

    Orphanet Journal of Rare Diseases, Vol. 12, Núm. 1

2015

  1. Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach

    Molecular Genetics and Metabolism, Vol. 115, Núm. 1, pp. 17-22

2013

  1. Long-term follow-up and outcome of phenylketonuria patients on sapropterin: A retrospective study

    Pediatrics, Vol. 131, Núm. 6