Publicaciones en colaboración con investigadores/as de Centre Hospitalier Universitaire de Nancy (11)

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

2019

  1. International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

    Molecular Genetics and Metabolism, Vol. 127, Núm. 1, pp. 1-11

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

2015

  1. Management of adult patients with phenylketonuria: Survey results from 24 countries

    European Journal of Pediatrics, Vol. 174, Núm. 1, pp. 119-127

  2. The challenges of managing coexistent disorders with phenylketonuria: 30 cases

    Molecular Genetics and Metabolism, Vol. 116, Núm. 4, pp. 242-251

2013

  1. Main issues in micronutrient supplementation in phenylketonuria

    Molecular Genetics and Metabolism, Vol. 110, Núm. SUPPL.

  2. Micronutrient status in phenylketonuria

    Molecular Genetics and Metabolism, Vol. 110, Núm. SUPPL.

2009

  1. Optimizing the use of sapropterin (BH4) in the management of phenylketonuria

    Molecular Genetics and Metabolism, Vol. 96, Núm. 4, pp. 158-163