Publicacións en colaboración con investigadores/as de University Hospital Heidelberg (10)

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. The Genetic Landscape and Epidemiology of Phenylketonuria

    American Journal of Human Genetics, Vol. 107, Núm. 2, pp. 234-250

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. 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

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

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

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