[The current status and challenges of family screening in rare genetic diseases: Fabry disease as an example]
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Updated: Sep 25, 2025

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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
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1Department of Nephrology, Institute of Nephrology, Ruijin Hospital, the Medical School of Shanghai Jiaotong University, Shanghai 200025, China.
Zhonghua Nei Ke Za Zhi
|April 30, 2022
Abstract
No abstract available in PubMed .
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