Last Updated: 09/26/2026
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Found 107 publications
Genome Editing for Glycogen Storage Diseases.
Journal: Journal of inherited metabolic disease
Published: April 25, 2026
Neonatal gene therapy with AAV2/8-LSPhGAA improves hypertrophic cardiomyopathy in the Gaac.1826dupA knock-in murine model.
Journal: Molecular genetics and metabolism
Published: March 03, 2026
Seeking stability for gene addition in inborn errors of metabolism.
Journal: Molecular therapy. Nucleic acids
Published: February 26, 2026
Developing therapeutics for rare cardiovascular diseases.
Journal: American heart journal
Published: September 08, 2025
Longitudinal characterization of Gaac.1826dupA mice reveals the cardiac, myopathic and biochemical phenotypes of Pompe disease.
Journal: Disease models & mechanisms
Published: August 11, 2025
Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study.
Journal: Orphanet journal of rare diseases
Published: August 06, 2025
Novel promoters drive therapeutic transgene expression and evade transgene-specific immune responses in a mouse model of Pompe disease.
Journal: Molecular genetics and metabolism
Published: August 01, 2025
Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing.
Journal: Molecular genetics and metabolism reports
Published: July 23, 2025
Corrigendum to "Genetic Analysis and multimodal imaging confirm m.12148 T>C mitochondrial variant pathogenicity leading to multisystem dysfunction" [Molecular Genetics and Metabolism 144 (2025); 109049].
Journal: Molecular genetics and metabolism
Published: April 10, 2025
Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.
Journal: Pediatric neurology
Published: November 26, 2024
Developing a public-facing tool to monitor inclusion of special populations in clinical research.
Journal: Journal of clinical and translational science
Published: August 09, 2024
Staying on target in gene and cell therapy.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: August 06, 2024
Last Updated: 09/26/2026