Priya S Kishnani

28PUBLICATIONS
73CO-AUTHORS
Infant and child healthMajor global burdens of diseaseElectrochemical energy storage and conversionRheumatology and arthritisMedical biochemistry - proteins and peptides (incl. medical proteomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (28)

|Jan 26, 2026
Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis.

Jennifer L Cohen, M Makenzie Beaman, Eleanor Rodriguez-Rassi

|Nov 26, 2025
Elevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe Disease.

Alicia Khazzeka, Rebecca L Koch, Jeong-A Lim

|Nov 25, 2025
The Global Hypophosphatasia Registry: lessons learned from a decade of real-world data.

Priya S Kishnani, Lothar Seefried, Keiichi Ozono

|Nov 12, 2025
Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX γ2.

Rebecca A Gibson, William R Jeck, Rebecca L Koch

|Nov 06, 2025
The Detection of Down Syndrome Arthritis in Clinical Practice: A Multicenter, International Pilot and Feasibility Study of a Down Syndrome-Specific Musculoskeletal Screening Tool.

Jordan T Jones, Nasreen Talib, Emily Cramer

|Oct 05, 2025
Revisiting the Genetics of Hypophosphatasia.

Priya S Kishnani, Catherine Rehder, Keiichi Ozono

Pageof 5

Frequent Collaborators

5 joint publications

Rebecca L Koch

3 joint publications

Jeong-A Lim

3 joint publications

Brian G Skotko

2 joint publications

Kathryn M Dahir