Related Experiment Video
Updated: Jun 6, 2025

10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
8.0K
Imaging improvement in acid sphingomyelinase deficiency on enzyme replacement therapy
William L Simpson1, Jaya Ganesh2
1Department of Diagnostic, Molecular and Interventional Radiology, Icahn School of Medicine at Mount Sinai, Box 1234, 1 Gustave L Levy Place, New York, NY 10029, USA.
Molecular Genetics and Metabolism
|November 21, 2024
Abstract
No abstract available in PubMed .

