Improved outcomes in infantile-onset Pompe disease through early enzyme replacement therapy enabled by newborn screening: Insights from a multisite US cohort

Molecular Genetics and Metabolism 2026

View at publisher
Authors: Ankit K. Desai, Eleanor Rodriguez-Rassi, Suhag H Parikh, Rossana Sanchez Russo, J. Austin Hamm, Irene Chang, Damara N. Ortiz, Molly A. McPheron, Holly Lydigsen, Stephanie DeArmey, Sarah Young, Priya S. Kishnani
DOI: 10.1016/j.ymgme.2025.109381
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
109381–109381
Publication date
1 February 2026
Language
EN