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Molecular Genetics and Metabolism|August 3, 2025
Meta-analysis of cognitive outcomes in children and adults with early treated phenylketonuria - Results across functionsCristina Romani, Stephan Huijbregts, Francjan J van Spronsen, et al.
Nutrients|October 27, 2022
Impact of Fruit and Vegetable Protein vs. Milk Protein on Metabolic Control of Children with Phenylketonuria: A Randomized Crossover Controlled TrialAlex Pinto, Anne Daly, Júlio César Rocha, et al.
International Journal of Neonatal Screening|October 24, 2025
Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert OpinionsEva Thimm, Anselma Riederer, Jerry Vockley, et al.
Nutrients|August 28, 2025
Protein Substitute Absorption: A Randomised Controlled Trial Comparing CGMP vs. Amino Acids vs. Micellar Casein in Healthy VolunteersAnne Daly, Alex Pinto, Sharon Evans, et al.
Molecular Genetics and Metabolism|October 6, 2009
Management of phenylketonuria in Europe: survey results from 19 countriesNenad Blau, Amaya Bélanger-Quintana, Mübeccel Demirkol, et al.
Nutrients|September 28, 2021
Physical Growth of Patients with Hereditary Tyrosinaemia Type I: A Single-Centre Retrospective StudyOzlem Yilmaz, Anne Daly, Alex Pinto, et al.
Nutrients|April 3, 2021
Protein Substitute Requirements of Patients with Phenylketonuria on BH4 Treatment: A Systematic Review and Meta-AnalysisFatma Ilgaz, Cyril Marsaux, Alex Pinto, et al.
Molecular Imaging and Biology|October 27, 2010
Synthesis and preliminary evaluation of piperidinyl and pyrrolidinyl iodobenzoates as imaging agents for butyrylcholinesteraseIan R Macdonald, G Andrew Reid, E Eric Joy, et al.
Nutrients|December 9, 2023
Total Protein Intake in Patients with PKU: Adequacy Evaluation According to the European PKU Guidelines from 2017Melanie Gomes, Manuela Ferreira Almeida, Catarina Sousa Barbosa, et al.
Pediatrics|July 14, 2010
Challenges and pitfalls in the management of phenylketonuriaFrançois Feillet, Francjan J van Spronsen, Anita MacDonald, et al.
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