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Nutrients|June 13, 2025
An Assessment of Dietary Intake, Feeding Practices, Growth, and Swallowing Function in Young Children with Late-Onset Pompe Disease: A Framework for Developing Nutrition GuidelinesSurekha Pendyal, Rebecca L Koch, Harrison N Jones, et al.
JIMD Reports|September 13, 2023
Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapyDavid G Jackson, Rebecca L Koch, Surekha Pendyal, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|May 11, 2026
Contrasting the genetic architecture of cardiac glutathione against other organs: unveiling a unique tissue-specific locusJessica Strosahl, Susan McClatchy, Gary A Churchill, et al.
Frontiers in Genetics|September 30, 2022
A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuumBridget T Kiely, Rebecca L Koch, Leticia Flores, et al.
Frontiers in Genetics|January 2, 2024
Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearlsMatthew M Gayed, Paulo Sgobbi, Wladimir Bocca Viera De Rezende Pinto, et al.
JIMD Reports|November 26, 2025
Elevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe DiseaseAlicia Khazzeka, Rebecca L Koch, Jeong-A Lim, et al.
Journal of Inherited Metabolic Disease|July 8, 2023
Gene therapy for glycogen storage diseasesDwight D Koeberl, Rebecca L Koch, Jeong-A Lim, et al.
JIMD Reports|November 15, 2024
Gaucher disease type 3c: Expanding the clinical spectrum of an ultra-rare diseaseJohn S Wang, Rebecca L Koch, Daniel Kenney-Jung, et al.
Molecular Genetics and Metabolism Reports|September 24, 2024
Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulationAngie H Fares, Ankit K Desai, Laura E Case, et al.
Molecular Genetics and Metabolism|November 27, 2025
Predicting subtypes of glycogen storage disease type IV: Challenges of hepatic subtypes and genotype-phenotype correlationAnne Taylor, Desale Yacob, Bonita Fung, et al.
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