Last Updated: 09/26/2026
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Found 105 publications
Advancing variant agnostic liver-directed gene editing using homology-independent targeted integration.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: August 06, 2026
Letter to the editor: Newborn screening for low blood citrulline leads to diagnosis of ornithine aminotransferase deficiency.
Journal: Molecular genetics and metabolism
Published: April 03, 2026
Bone mineral density in participants with phenylalanine hydroxylase (PAH) deficiency: a report from the PHEFREE rare disorders consortium.
Journal: Molecular genetics and metabolism
Published: March 24, 2026
Management of pegvaliase-related skin concerns: best practice recommendations using a modified Delphi approach.
Journal: Molecular genetics and metabolism
Published: August 26, 2025
Measuring dietary intake among participants with a urea cycle disorder using standard diet records or a novel food photography app.
Journal: Molecular genetics and metabolism
Published: June 03, 2025
Enhancement of therapeutic transgene insertion for treatment of murine phenylketonuria.
Journal: Molecular therapy. Nucleic acids
Published: April 09, 2025
Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD).
Journal: Journal of inherited metabolic disease
Published: March 24, 2025
Intelligence quotient scores among early-treated phenylketonuria patients: results from a systematic literature review.
Journal: Orphanet journal of rare diseases
Published: January 14, 2025
Long-term management strategies for pegvaliase use in phenylketonuria: Lessons learned from the phase-3 PRISM open-label extension study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 20, 2024
Corrigendum to "Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data" [Molecular Genetics and Metabolism 141, Issue 3 (2024) 108122].
Journal: Molecular genetics and metabolism
Published: November 26, 2024
Phenylketonuria in adults: we know plenty, but there is much more to learn.
Journal: The American journal of clinical nutrition
Published: November 25, 2024
iPSC-Derived LCHADD Retinal Pigment Epithelial Cells Are Susceptible to Lipid Peroxidation and Rescued by Transfection of a Wildtype AAV-HADHA Vector.
Journal: Investigative ophthalmology & visual science
Published: September 16, 2024
Last Updated: 09/26/2026