Last Updated: 09/26/2026
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Found 36 publications
Biomarkers and surrogate endpoints for drug development in propionic acidemia.
Journal: Molecular genetics and metabolism
Published: April 16, 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
Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials.
Journal: Journal of inherited metabolic disease
Published: September 03, 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
Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial.
Journal: Lancet (London, England)
Published: May 13, 2024
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program.
Journal: Molecular genetics and metabolism reports
Published: January 16, 2024
Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria.
Journal: Molecular genetics and metabolism
Published: August 13, 2023
Challenges and strategies for clinical trials in propionic and methylmalonic acidemias.
Journal: Molecular genetics and metabolism
Published: April 05, 2023
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial.
Journal: Nature metabolism
Published: February 10, 2023
Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria.
Journal: Clinical and translational science
Published: November 11, 2020
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.
Journal: Molecular genetics and metabolism
Published: September 08, 2020
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
Journal: Human molecular genetics
Published: January 29, 2020
Last Updated: 09/26/2026