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Nutrients|August 26, 2023
Phenylalanine Tolerance over Time in Phenylketonuria: A Systematic Review and Meta-AnalysisAlex Pinto, Fatma Ilgaz, Sharon Evans, et al.
Journal of Medical Case Reports|June 13, 2026
Dietary conflicts with standard clinical procedures for colonoscopy in Phenylketonuria: a case reportMartina Tosi, Anne Daly, Catherine Ashmore, et al.
Molecular Genetics and Metabolism|February 12, 2009
Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuriaNenad Blau, Amaya Bélanger-Quintana, Mübeccel Demirkol, et al.
Neuroscience and Biobehavioral Reviews|October 25, 2022
Meta-analyses of cognitive functions in early-treated adults with phenylketonuriaCristina Romani, Andrew Olson, Lynne Aitkenhead, et al.
Nutrients|October 7, 2020
Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult SamplesCristina Romani, Filippo Manti, Francesca Nardecchia, et al.
Nutrients|September 23, 2022
Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?Roeland A F Evers, Annemiek M J van Wegberg, Anita MacDonald, et al.
Orphanet Journal of Rare Diseases|November 30, 2019
Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levelsCristina Romani, Filippo Manti, Francesca Nardecchia, et al.
Head & Neck|January 29, 2025
A Pilot Trial of Tongue Reconstruction Using the Chimeric Innervated Vastus Lateralis Muscle and Antero-Lateral Thigh Free FlapEmma Charters, Jessica Boehm, Anita Macdonald D'Silva, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|May 30, 2019
The European Phenylketonuria Guidelines and the challenges on management practices in PortugalCátia Sousa, Manuela Ferreira Almeida, Catarina Sousa Barbosa, et al.
Nutrients|July 15, 2026
Real-World Administration Practices of Sapropterin in Paediatric and Adults with Phenylketonuria: Results from a United Kingdom Cross-Sectional SurveyMartina Tosi, Sharon Evans, Alex Pinto, et al.
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