Publications in collaboration with researchers from Leiden University (7)

2022

  1. Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach

    Molecular Genetics and Metabolism, Vol. 137, Núm. 1-2, pp. 114-126

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

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