Publications en collaboration avec des chercheurs de Universidade Do Porto (20)

2024

  1. Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?

    Nutrients, Vol. 16, Núm. 13

  2. Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity

    Nutrients , Vol. 16, Núm. 17

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. Dietary practices in methylmalonic acidaemia: A European survey

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

  2. 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

  3. PKU dietary handbook to accompany PKU guidelines

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

2019

  1. A series of three case reports in patients with phenylketonuria performing regular exercise: First steps in dietary adjustment

    Journal of Pediatric Endocrinology and Metabolism, Vol. 32, Núm. 6, pp. 635-641

  2. Long-term growth in phenylketonuria: A systematic review and meta-analysis

    Nutrients, Vol. 11, Núm. 9

  3. 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. 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

2016

  1. Protein substitutes for phenylketonuria in Europe: Access and nutritional composition

    European Journal of Clinical Nutrition, Vol. 70, Núm. 7, pp. 785-789

  2. Weight Management in Phenylketonuria: What Should Be Monitored?

    Annals of Nutrition and Metabolism, Vol. 68, Núm. 1, pp. 60-65

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

  2. Special low protein foods for phenylketonuria: Availability in Europe and an examination of their nutritional profile

    Orphanet Journal of Rare Diseases, Vol. 10, Núm. 1

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

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

  4. When should social service referral be considered in phenylketonuria?

    Molecular Genetics and Metabolism Reports, Vol. 2, pp. 85-88

2014

  1. Overweight and obesity in PKU: The results from 8 centres in Europe and Turkey

    Molecular Genetics and Metabolism Reports, Vol. 1, pp. 483-486