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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Fabry Disease and Its Management: A Literature Analysis
Smruti M Besekar1,2, Sangita D Jogdand3, Waqar M Naqvi4
1Pharmacology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Abstract:
A review was conducted to evaluate interventional therapy for Fabry disease. Fabry disease is a multisystemic X-linked storage disorder that affects the entire body and needs to be treated at an early age. The search was conducted using keywords such as "Fabry disease" and "Management" to review the databases. Seven studies were chosen from the 90 studies, and it was discovered that migalastat and enzyme replacement medication were successful in treating the condition, whereas agalsidase beta failed to have a positive effect on the patient. However, this analysis produced ambiguous conclusions. As only a small number of studies were included in the analysis, additional investigations and evaluations based on randomized controlled trials and case studies are required to determine potential drug-related outcomes. There is a need for future therapeutic research to cure genetically affected illnesses and diseases such as Fabry disease.
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