Francjan V. Van Spronsen-Spronsen

Groningen, GR, Netherlands

Last Updated: 09/26/2026

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Found 52 publications

Living with phenylketonuria in adulthood.

Living with phenylketonuria in adulthood.

Journal: Nutrition (Burbank, Los Angeles County, Calif.)

Published: December 19, 2025

Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study.

Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 01, 2025

Meta-analysis of cognitive outcomes in children and adults with early treated phenylketonuria - Results across functions.

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.

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.

European guidelines on diagnosis and treatment of phenylketonuria: First revision.

Journal: Molecular genetics and metabolism

Published: January 05, 2025

The influence of professionals' personal views and values in the development of guidelines for rare diseases: an example from phenylketonuria.

The influence of professionals' personal views and values in the development of guidelines for rare diseases: an example from phenylketonuria.

Journal: Orphanet journal of rare diseases

Published: December 23, 2024

Inter-individuality in the transport and effect of phenylalanine in the brain: A double case report of two 'unusual' phenylketonuria patients.

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

Meta-analyses of cognitive functions in early-treated adults with phenylketonuria.

Meta-analyses of cognitive functions in early-treated adults with phenylketonuria.

Journal: Neuroscience and biobehavioral reviews

Published: August 21, 2022

Correlations of blood and brain biochemistry in phenylketonuria: Results from the Pah-enu2 PKU mouse.

Correlations of blood and brain biochemistry in phenylketonuria: Results from the Pah-enu2 PKU mouse.

Journal: Molecular genetics and metabolism

Published: June 09, 2021

The increasing importance of LNAA supplementation in phenylketonuria at higher plasma phenylalanine concentrations.

The increasing importance of LNAA supplementation in phenylketonuria at higher plasma phenylalanine concentrations.

Journal: Molecular genetics and metabolism

Published: June 08, 2021

Phenylketonuria.

Phenylketonuria.

Journal: Nature reviews. Disease primers

Published: March 30, 2021

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.

Journal: The Journal of pediatrics

Published: January 29, 2021

Showing 1-12 of 52

Last Updated: 09/26/2026