Associate Professor, PediatricsAssociate Professor, Pathology, Microbiology and ImmunologyNew York Medical College - School of Medicine
Contact
Education
- M.D., Trinity College
Publications
- van Gool R, Shah N, Cao A, et. al. "Evaluation of Electrical Impedance Myography as a Noninvasive Musculoskeletal Biomarker in Infantile- and Late-Onset Pompe Disease." Genetics in medicine : official journal of the American College of Medical Genetics, (), (2026) 102647. doi: 10.1016/j.gim.2026.102647
- Kishnani PS, Van Den Hout JMP, Hahn A, et. al. "Insights into immunogenicity and therapeutic strategies to mitigate the immune response in infantile-onset Pompe disease: a comprehensive systematic literature review." Frontiers in immunology, 16(), (2026) 1690312. doi: 10.3389/fimmu.2025.1690312
- Desai AK, Rodriguez-Rassi E, Parikh S, et. al. "Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease." Genetics in medicine open, 4(), (2025) 103478. doi: 10.1016/j.gimo.2025.103478
- Kronn D, Davison J, Broomfield A, et. al. "The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase Alfa." The Journal of pediatrics, 285(), (2025) 114664. doi: 10.1016/j.jpeds.2025.114664
- Kishnani PS, Kronn D, Suwazono S, et. al. "Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry." Orphanet journal of rare diseases, 18(1), (2023) 381. doi: 10.1186/s13023-023-02981-2
- Kishnani PS, Kronn D, Brassier A, et. al. "Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report." Genetics in medicine : official journal of the American College of Medical Genetics, 25(2), (2023) 100328. doi: 10.1016/j.gim.2022.10.010
- Duong T, Kishnani PS, An Haack K, et. al. "Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort." Journal of neuromuscular diseases, 9(6), (2022) 713-730. doi: 10.3233/JND-210784
