University Medical Center Hamburg-Eppendorf-ko ikertzaileekin lankidetzan egindako argitalpenak (20)

2024

  1. Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial

    The Lancet, Vol. 404, Núm. 10460, pp. 1333-1345

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

  2. Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase

    Molecular Genetics and Metabolism Reports, Vol. 28

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. 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

  2. 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

2016

  1. Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results

    European Journal of Pediatrics, Vol. 175, Núm. 2, pp. 261-272

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

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

  3. Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling

    Molecular Genetics and Metabolism, Vol. 114, Núm. 4, pp. 564-569

  4. The Kuvan® adult maternal paediatric european registry (KAMPER) multinational observational study: Baseline and 1-year data in phenylketonuria patients responsive to sapropterin

    JIMD Reports (Springer), pp. 35-43

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

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

2010

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

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