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Science Advances|November 12, 2025
Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX γ2Rebecca A Gibson, William R Jeck, Rebecca L Koch, et al.
The American Journal of Pathology|December 17, 2025
Systemic Disease Progression and Neurodegeneration in the Gbe1ys/ys Mouse Model of Glycogen Storage Disease Type IVSu Jin Choi, Rebecca L Koch, Rebecca A Gibson, et al.
Molecular Genetics and Metabolism|November 2, 2024
Progressive liver disease and dysregulated glycogen metabolism in murine GSD IX γ2 models human diseaseRebecca A Gibson, William R Jeck, Rebecca L Koch, et al.
JCI Insight|June 24, 2024
Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys modelRebecca L Koch, Bridget T Kiely, Su Jin Choi, et al.
NPJ Genomic Medicine|November 10, 2025
PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgiaRebecca L Koch, Angie H Fares, Benjamin T Cocanougher, et al.
Ebiomedicine|January 3, 2026
Plasma glial fibrillary acidic protein (GFAP) is a biomarker for central nervous system involvement in infantile-onset Pompe diseaseNeha Regmi, Bijan Abar, Jeong-A Lim, et al.
Redox Biology|June 25, 2024
Discovery of genomic loci for liver health and steatosis reveals overlap with glutathione redox geneticsRebecca L Koch, James B Stanton, Susan McClatchy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 27, 2025
Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experienceNeha Regmi, Daniel Kenney-Jung, Grace Stafford, et al.
JIMD Reports|April 8, 2026
Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1-Related DiseaseRebecca L Koch, H Orhan Akman, Erin Chown, et al.
Genetics in Medicine Open|May 25, 2026
Evaluating and monitoring liver disease severity in glycogen storage disease type IX: Performance of novel and established clinical scoresAnna Paschall, Rebecca L Koch, Alisha M Mavis, et al.
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