Related Experiment Video
Updated: Sep 23, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Update of treatment for Gaucher disease
Weijing Kong1, Cheng Lu2, Yingxue Ding1
1Department of Pediatrics, Beijing Friendship Hospital, Capital Medical University, Beijing, 100050, China.
Abstract:
Gaucher disease (GD), the most common lysosomal disorders, is a rare autosomal recessive hereditary disease that is caused by deficiency of glucosylceramidase. For now, there are five approved therapies for GD, which are used to treat thousands of patients with GD. Despite success of approved therapies, many unresolved issues attract academic institutions and industry to develop potential therapies to resolve them. This paper updated the latest information about approved therapies and potential curative therapies.
More Related Videos
Related Concept Videos
Alzheimer's Disease: Treatment
Parkinson's Disease: Treatment
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
Cystic Fibrosis: Management
Sinus disease and chronic...
Lysosomal Hydrolases
Chronic Pancreatitis II: Collaborative Care
Assessment:
Myasthenia Gravis: Overview and Treatment
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...

