Related Experiment Video
Updated: Jan 26, 2026

10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
8.5K
Silent but significant - A synonymous SNV alters prognosis in Pompe disease
Jan Lukas1, Andreas Hermann2, Anne-Katrin Giese3
1Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, University of Rostock, 18147 Rostock, Germany.
Ebiomedicine
|April 16, 2019
Abstract
No abstract available in PubMed .
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