Publicacions en col·laboració amb investigadors/es de Università de Roma La Sapienza (11)

2021

  1. Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries

    Molecular Genetics and Metabolism, Vol. 132, Núm. 4, pp. 215-219

2020

  1. Erratum: PKU dietary handbook to accompany PKU guidelines (Orphanet Journal of Rare Diseases (2020) 15 (171) DOI: 10.1186/s13023-020-01391-y)

    Orphanet Journal of Rare Diseases

  2. PKU dietary handbook to accompany PKU guidelines

    Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1

  3. The Genetic Landscape and Epidemiology of Phenylketonuria

    American Journal of Human Genetics, Vol. 107, Núm. 2, pp. 234-250

2019

  1. Weaning practices in phenylketonuria vary between health professionals in Europe

    Molecular Genetics and Metabolism Reports, Vol. 18, pp. 39-44

2018

  1. Early feeding practices in infants with phenylketonuria across Europe

    Molecular Genetics and Metabolism Reports, Vol. 16, pp. 82-89

2017

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

    The Lancet Diabetes and Endocrinology

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

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

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

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

2013

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

    Pediatrics, Vol. 131, Núm. 6

2010

  1. Management of phenylketonuria in Europe: Survey results from 19 countries

    Molecular Genetics and Metabolism, Vol. 99, Núm. 2, pp. 109-115