Related Experiment Video
Updated: Jan 13, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
[Disease severity assessment and standardized follow-up for Gaucher disease]
1Department of Pediatric Endocrinology and Genetics, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China.
No abstract available in PubMed .
Related Concept Videos
Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test
Chronic Pancreatitis II: Collaborative Care
Assessment:
Nephrotic Syndrome II : Assessment and Medical Management
Lysosomal Hydrolases
Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies
Medical History
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

