Last Updated: 09/26/2026
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Found 39 publications
Adeno-Associated Virus Gene Therapy Translation: Lessons from Early Regulatory Meetings.
Journal: Human gene therapy
Published: June 19, 2026
Metabolic rerouting of valine and isoleucine oxidation increases survival in zebrafish models of disorders of propionyl-CoA metabolism.
Journal: Human molecular genetics
Published: March 17, 2025
Adeno-Associated Virus Gene Therapy Development: Early Planning and Regulatory Considerations to Advance the Platform Vector Gene Therapy Program.
Journal: Human gene therapy
Published: February 20, 2025
Breath biopsy in inborn errors of metabolism: A proof-of-principle study in propionic acidemia.
Journal: Molecular genetics and metabolism
Published: October 09, 2024
Successfully Navigating Food and Drug Administration Orphan Drug and Rare Pediatric Disease Designations for AAV9-hPCCA Gene Therapy: The National Institutes of Health Platform Vector Gene Therapy Experience.
Journal: Human gene therapy
Published: January 25, 2023
Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology.
Journal: Molecular psychiatry
Published: December 05, 2022
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
Journal: American journal of medical genetics. Part A
Published: September 16, 2021
Correction to: 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 11, 2021
Case report of a pseudo-isodicentric chromosome 9 resulting in mosaic trisomy 9.
Journal: Clinical case reports
Published: December 04, 2020
Severity modeling of propionic acidemia using clinical and laboratory biomarkers.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 27, 2020
1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 27, 2020
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Journal: Human molecular genetics
Published: February 05, 2020
Last Updated: 09/26/2026