Phenylketonuria (PKU) Latest Advances

Find the Latest Research About Phenylketonuria (PKU)

Last Updated: 02/24/2026

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Found 8271 publications

Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 09, 2026

Correction: Endogenous tetrahydrobiopterin in humans: circadian rhythm, sex, race, age, and disease status.

Correction: Endogenous tetrahydrobiopterin in humans: circadian rhythm, sex, race, age, and disease status.

Journal: Frontiers in pharmacology
Published: December 10, 2025

Sepiapterin as a treatment for people living with phenylketonuria: a plain language summary of the APHENITY trial.

Sepiapterin as a treatment for people living with phenylketonuria: a plain language summary of the APHENITY trial.

Journal: Journal of comparative effectiveness research
Published: December 09, 2025

Pediatric phenylketonuria and the eye: Unveiling subclinical anterior segment changes.

Pediatric phenylketonuria and the eye: Unveiling subclinical anterior segment changes.

Journal: Indian journal of ophthalmology
Published: November 25, 2025

Cognitive Functioning in Phenylketonuria: A Lifespan Perspective.

Cognitive Functioning in Phenylketonuria: A Lifespan Perspective.

Journal: Nutrients
Published: November 18, 2025

Developing iPSC models from phenylketonuria patients with varying PAH gene mutations.

Developing iPSC models from phenylketonuria patients with varying PAH gene mutations.

Journal: Stem cell research
Published: November 10, 2025

Point-of-Care Testing in PKU: A New ERA of Blood Phenylalanine Monitoring.

Point-of-Care Testing in PKU: A New ERA of Blood Phenylalanine Monitoring.

Journal: Nutrients
Published: November 10, 2025

Gut Microbiota and Metabolic Modulation by Slow-Release Protein Substitutes in Phenylketonuria: Findings from the PREMP Study.

Gut Microbiota and Metabolic Modulation by Slow-Release Protein Substitutes in Phenylketonuria: Findings from the PREMP Study.

Journal: Nutrients
Published: November 10, 2025

Ultra-sensitive nanostructured electrochemical immunosensor for selective monitoring of L-phenylalanine in phenylketonuria patients.

Ultra-sensitive nanostructured electrochemical immunosensor for selective monitoring of L-phenylalanine in phenylketonuria patients.

Journal: Mikrochimica acta
Published: November 09, 2025

Vitamins D, A and E, and Beta-Carotene in Adherent and Non-Adherent Individuals with Phenylketonuria: Cross-Sectional Study, Systematic Review and Meta-Analysis.

Vitamins D, A and E, and Beta-Carotene in Adherent and Non-Adherent Individuals with Phenylketonuria: Cross-Sectional Study, Systematic Review and Meta-Analysis.

Journal: Nutrients
Published: November 08, 2025

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes.

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes.

Journal: International journal of neonatal screening
Published: October 27, 2025

Metabolic microenvironment-forming porous hydrogels for the protection of phenylalanine ammonia-lyase in the intestine.

Metabolic microenvironment-forming porous hydrogels for the protection of phenylalanine ammonia-lyase in the intestine.

Journal: Biomaterials
Published: October 23, 2025
Showing 1-12 of 8,271

Last Updated: 02/24/2026