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European Guidelines on Diagnosis and Treatment of Phenylketonuria: First Revision2025 Springer eBooks book-chapter Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Annemiek M. J. van Wegberg, Anita MacDonald, Kirsten Ahring, Amaya Bélanger-Quintana, Skadi Beblo, Nenad Blau, +12 more
99citations -
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach2022 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Barbara K. Burton, Alvaro Hermida Ameijeiras, Amaya Bélanger-Quintana, Heather Bell, Kendra Bjoraker, Shawn E. Christ, +15 more
31citations -
Correlations of blood and brain biochemistry in phenylketonuria: Results from the Pah-enu2 PKU mouse2021 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Allysa M. Dijkstra, Ninke van Vliet, Danique van Vliet, Cristina Romani, Stephan C. J. Huijbregts, Els van der Goot, +5 more
20citations -
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway2022 Journal of Inherited Metabolic Disease article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Saikat Santra, +29 more
13citations -
Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries2021 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Roeland A. F. Evers, Annemiek M. J. van Wegberg, Kirsten Ahring, Skadi Beblo, Amaya Bélanger-Quintana, Annet M. Bosch, +15 more
4citations -
Meta-analysis of cognitive outcomes in children and adults with early treated phenylketonuria – Results across functions2025 Molecular Genetics and Metabolism review Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Cristina Romani, Stephan C. J. Huijbregts, Francjan J. van Spronsen, Anita MacDonald, Annemiek M. J. van Wegberg, Andrew Olson
4citations -
Meta-analyses of cognitive functions in early-treated adults with phenylketonuria2022 Neuroscience & Biobehavioral Reviews article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Cristina Romani, Andrew Olson, Lynne Aitkenhead, Dhanesha Patel, Francjan J. van Spronsen, Anita MacDonald, +2 more
45citations -
The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria2024 Journal of Inherited Metabolic Disease article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Annemiek M. J. van Wegberg, Janneke C. van der Weerd, Udo F. H. Engelke, Karlien L. M. Coene, Rianne Jahja, Stephan J. L. Bakker, +4 more
22citations -
Metabolic control during the neonatal period in phenylketonuria: associations with childhood IQ2021 Pediatric Research article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Geertje B. Liemburg, Stephan C. J. Huijbregts, Frank Rutsch, Reinhold Feldmann, Rianne Jahja, J. Weglage, +3 more
16citations -
Inter-individuality in the transport and effect of phenylalanine in the brain: A double case report of two ‘unusual’ phenylketonuria patients2025 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
E.M. van Steenis, Stephan C. J. Huijbregts, Danique Draaisma‐van Vliet, Margaretha Rebecca Heiner-Fokkema, Alexander J. M. Rennings, Paul Baron, +2 more
3citations -
PKU dietary handbook to accompany PKU guidelines2020 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Anita MacDonald, Annemiek M. J. van Wegberg, Kirsten Ahring, Skadi Beblo, Amaya Bélanger-Quintana, Alberto Burlina, +11 more
258citations -
Agreement between the Amsterdam Neuropsychological Tasks and the Cambridge Neuropsychological Test Automated Battery in the assessment of PKU patients and healthy controls2025 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
E.M. van Steenis, Stephan C. J. Huijbregts, Cristina Romani, Ninke van Vliet, Allysa M. Dijkstra, M. Estela Rubio‐Gozalbo, +4 more
1citations -
Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?2022 Nutrients article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Roeland A. F. Evers, Annemiek M. J. van Wegberg, Anita MacDonald, Stephan C. J. Huijbregts, Vincenzo Leuzzi, Francjan J. van Spronsen
17citations -
Correction to: PKU dietary handbook to accompany PKU guidelines2020 Orphanet Journal of Rare Diseases erratum Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Anita MacDonald, Annemiek M. J. van Wegberg, Kirsten Ahring, Skadi Beblo, Amaya Bélanger-Quintana, Alberto Burlina, +11 more
14citations -
monarch-initiative/mondo: v2026-10-062026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, MeeSiing Ngu, Trish Whetzel, +21 more
0citations
19 results