Francjan J. Van Spronsen

Groningen, GR, Netherlands

Last Updated: 09/26/2026

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Found 129 publications

European PKU guidelines at a glance: infographics summarising key recommendations.

European PKU guidelines at a glance: infographics summarising key recommendations.

Journal: Molecular genetics and metabolism

Published: July 28, 2026

How Well Is Blood Phenylalanine Controlled in Maternal PKU in Europe? Results from 102 Pregnancies.

How Well Is Blood Phenylalanine Controlled in Maternal PKU in Europe? Results from 102 Pregnancies.

Journal: Nutrients

Published: May 25, 2026

Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.

Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.

Journal: Metabolomics : Official journal of the Metabolomic Society

Published: April 07, 2026

Toward personalized treatment in phenylketonuria: Intra-individual variation of in vivo phenylalanine oxidation using the 13C-phenylalanine breath test.

Toward personalized treatment in phenylketonuria: Intra-individual variation of in vivo phenylalanine oxidation using the 13C-phenylalanine breath test.

Journal: Molecular genetics and metabolism

Published: March 25, 2026

Mapping the Severity of Phenylalanine Hydroxylase Deficiency.

Mapping the Severity of Phenylalanine Hydroxylase Deficiency.

Journal: Journal of inherited metabolic disease

Published: March 11, 2026

General movement assessment in infants with inherited metabolic disorders.

General movement assessment in infants with inherited metabolic disorders.

Journal: Early human development

Published: January 09, 2026

Vitamin B12 Supplementation: Is More Always Better?

Vitamin B12 Supplementation: Is More Always Better?

Journal: Nutrients

Published: December 05, 2025

Efficacy and safety of sepiapterin versus sapropterin in patients with phenylketonuria: Results from the Phase 3, randomized, crossover, open-label, active-controlled AMPLIPHY trial.

Efficacy and safety of sepiapterin versus sapropterin in patients with phenylketonuria: Results from the Phase 3, randomized, crossover, open-label, active-controlled AMPLIPHY trial.

Journal: Metabolism: clinical and experimental

Published: October 28, 2025

Risk of inadequate protein and micronutrient intakes in patients with PKU with an increased phe-tolerance: Impact of a micronutrient-dense protein substitute.

Risk of inadequate protein and micronutrient intakes in patients with PKU with an increased phe-tolerance: Impact of a micronutrient-dense protein substitute.

Journal: Molecular genetics and metabolism reports

Published: August 06, 2025

The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of Phenylketonuria.

The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of Phenylketonuria.

Journal: European journal of neurology

Published: July 04, 2025

Correction: Kuypers et al. Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. Int. J. Neonatal Screen. 2024, 10, 82.

Correction: Kuypers et al. Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. Int. J. Neonatal Screen. 2024, 10, 82.

Journal: International journal of neonatal screening

Published: June 27, 2025

Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines.

Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines.

Journal: Journal of inherited metabolic disease

Published: June 24, 2025

Showing 1-12 of 129

Last Updated: 09/26/2026