Last Updated: 09/26/2026
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Found 30 publications
Sepiapterin: A Distinct, Dual Mechanism of Action that Leads to Potential Treatment Benefits Across the Spectrum of Phenylketonuria Disease Severities.
Journal: Advances in therapy
Published: June 06, 2026
Development of a face-validated conceptual model structure for economic evaluation in phenylketonuria, through expert elicitation.
Journal: Orphanet journal of rare diseases
Published: December 15, 2025
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
Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi-Site Study.
Journal: JIMD reports
Published: November 19, 2025
Diazoxide Choline Extended-Release Tablets in Prader-Willi Syndrome: A Randomized, Double-Blind, Withdrawal Period Study.
Journal: The Journal of clinical endocrinology and metabolism
Published: September 15, 2025
Diazoxide Choline Extended-release Tablets in Prader-Willi Syndrome: A Randomized, Double-blind, Withdrawal Period Study.
Journal: The Journal of clinical endocrinology and metabolism
Published: September 15, 2025
Management of pegvaliase-related skin concerns: best practice recommendations using a modified Delphi approach.
Journal: Molecular genetics and metabolism
Published: August 26, 2025
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
Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE phase 1/2 randomized trial.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 16, 2025
Lessons learned from 5 years of pegvaliase in US clinics: A case series.
Journal: Molecular genetics and metabolism reports
Published: October 31, 2024
Performance of Dysmorphology-Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing.
Journal: Molecular genetics & genomic medicine
Published: May 16, 2024
Last Updated: 09/26/2026