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Frontiers in Genetics|February 5, 2024
Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfaChris Carter, Tracy Boggs, Laura E Case, et al.
Journal of Inherited Metabolic Disease|November 12, 2019
Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measuresAleena A Khan, Tracy Boggs, Michael Bowling, et al.
Molecular Genetics and Metabolism|February 20, 2026
Lessons from late-onset Pompe disease identified by Newborn screening: A systematic reviewMyriam Boueri, Jessica Doxey, Tracy Boggs, et al.
Molecular Genetics and Metabolism Reports|June 21, 2023
Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapyKatherine H Kim, Ankit K Desai, Erika R Vucko, et al.
JIMD Reports|January 21, 2021
Quantitative whole-body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle diseaseSamuela A Fernandes, Aleena A Khan, Tracy Boggs, et al.
Molecular Genetics and Metabolism|October 15, 2021
Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literatureAnna Paschall, Aleena A Khan, Syed Faaiz Enam, et al.
Molecular Genetics and Metabolism|September 27, 2025
Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe diseaseNeelam Makhijani, Myriam Boueri, Bijan Abar, 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.
Molecular Genetics and Metabolism Reports|November 25, 2021
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type IIIGhada Hijazi, Anna Paschall, Sarah P Young, et al.
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