Functional profiling-based evaluation of GAA VUS in Pompe disease using a transient expression system upgraded for capacity and robustness

Molecular Genetics and Metabolism 2026

View at publisher
Authors: Shelly Goomber, Parisa Amirifar, Jessica Doxey, Erica Burner Nading, Seung-Hye Jung, Gregory Crawford, Catherine Weaver Rehder, Deeksha Sarihyan Bali, Priya S. Kishnani
DOI: 10.1016/j.ymgme.2025.109440
Cited by: 0

Fields of Study & Subjects

Lysosomal Storage Disorders Research Glycogen Storage Diseases and Myoclonus Metabolism and Genetic Disorders

Publication details

Journal / source
Molecular Genetics and Metabolism
Volume
147
Issue
2
Pages
109440–109440
Publication date
1 February 2026
Language
EN