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Last Updated: 01/07/2026

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Found 8244 publications

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

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

Performance properties of filter-paper used in blood spot collection devices for quantitation of phenylalanine.

Performance properties of filter-paper used in blood spot collection devices for quantitation of phenylalanine.

Journal: Bioanalysis
Published: October 14, 2025

Defective Neural Stem and Progenitor Cell Proliferation in Neurodevelopmental Disorders.

Defective Neural Stem and Progenitor Cell Proliferation in Neurodevelopmental Disorders.

Journal: Journal of developmental biology
Published: October 10, 2025

Inducible Endothelial Gch1 Deletion Reveals Rapid, Sex-Specific Effects on Blood Pressure and Pregnancy Outcomes.

Inducible Endothelial Gch1 Deletion Reveals Rapid, Sex-Specific Effects on Blood Pressure and Pregnancy Outcomes.

Journal: Hypertension (Dallas, Tex. : 1979)
Published: October 01, 2025

Quantitative Ultrasound for the Assessment of Bone Quality in Hyperphenylalaninemia/Phenylketonuria Patients: Vitamin D Supplementation Versus No Supplementation.

Quantitative Ultrasound for the Assessment of Bone Quality in Hyperphenylalaninemia/Phenylketonuria Patients: Vitamin D Supplementation Versus No Supplementation.

Journal: Metabolites
Published: September 30, 2025

From dietary restriction to disease-targeted therapy: Sephience TM (sepiapterin) in phenylketonuria.

From dietary restriction to disease-targeted therapy: Sephience TM (sepiapterin) in phenylketonuria.

Journal: Annals of medicine and surgery (2012)
Published: September 26, 2025

A non-enzymatic electrochemical biosensor for the detection of phenylalanine using bismuth telluride nanosheets.

A non-enzymatic electrochemical biosensor for the detection of phenylalanine using bismuth telluride nanosheets.

Journal: Journal of materials chemistry. B
Published: September 23, 2025

Nutritional Practices and Knowledge of Patients with Phenylketonuria.

Nutritional Practices and Knowledge of Patients with Phenylketonuria.

Journal: Nutrients
Published: September 19, 2025

Underrecognized need for early detection of inborn errors of metabolism in China: A population-based study of 14.31 million residents (2012-2023).

Underrecognized need for early detection of inborn errors of metabolism in China: A population-based study of 14.31 million residents (2012-2023).

Journal: Molecular genetics and metabolism
Published: September 18, 2025
Showing 1-12 of 8,244

Last Updated: 01/07/2026