Stephan C. Huijbregts
Leiden, ZH 2333AK, Netherlands
Last Updated: 09/26/2026
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Found 63 publications
Cognitive Functioning in Phenylketonuria: A Lifespan Perspective.
Journal: Nutrients
Published: November 18, 2025
Meta-analysis of cognitive outcomes in children and adults with early treated phenylketonuria - Results across functions.
Journal: Molecular genetics and metabolism
Published: May 03, 2025
Agreement between the Amsterdam Neuropsychological Tasks and the Cambridge Neuropsychological Test Automated Battery in the assessment of PKU patients and healthy controls.
Journal: Molecular genetics and metabolism
Published: February 11, 2025
European guidelines on diagnosis and treatment of phenylketonuria: First revision.
Journal: Molecular genetics and metabolism
Published: January 05, 2025
Inter-individuality in the transport and effect of phenylalanine in the brain: A double case report of two 'unusual' phenylketonuria patients.
Journal: Molecular genetics and metabolism
Published: December 04, 2024
The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria.
Journal: Journal of inherited metabolic disease
Published: November 17, 2023
Meta-analyses of cognitive functions in early-treated adults with phenylketonuria.
Journal: Neuroscience and biobehavioral reviews
Published: August 21, 2022
Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?
Journal: Nutrients
Published: August 10, 2022
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach.
Journal: Molecular genetics and metabolism
Published: April 25, 2022
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
Journal: Journal of inherited metabolic disease
Published: March 04, 2022
Correlations of blood and brain biochemistry in phenylketonuria: Results from the Pah-enu2 PKU mouse.
Journal: Molecular genetics and metabolism
Published: June 09, 2021
Metabolic control during the neonatal period in phenylketonuria: associations with childhood IQ.
Journal: Pediatric research
Published: February 26, 2021
Last Updated: 09/26/2026