Publicaciones en colaboración con investigadores/as de Klinikum der Universität München (26)

2020

  1. Dietary practices in methylmalonic acidaemia: A European survey

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

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

2013

  1. Fluctuations in phenylalanine concentrations in phenylketonuria: A review of possible relationships with outcomes

    Molecular Genetics and Metabolism, Vol. 110, Núm. 4, pp. 418-423

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

    Pediatrics, Vol. 131, Núm. 6

  3. Main issues in micronutrient supplementation in phenylketonuria

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

  4. Micronutrient status in phenylketonuria

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

  5. Use of sapropterin in the management of phenylketonuria: Seven case reports

    Molecular Genetics and Metabolism, Vol. 108, Núm. 2, pp. 109-111

2012

  1. Diet in phenylketonuria: A snapshot of special dietary costs and reimbursement systems in 10 international centers

    Molecular Genetics and Metabolism, Vol. 105, Núm. 3, pp. 390-394