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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Cardiac challenges in patients with Fabry disease

F Weidemann1, A Linhart, L Monserrat

  • 1Department of Medicine I, Center of Cardiovascular Medicine, Würzburg, Germany. weidemann_f@medizin.uni-wuerzburg.de

International Journal of Cardiology
|September 2, 2009
PubMed
Summary

Fabry disease, a genetic disorder causing heart problems, requires early diagnosis for effective enzyme replacement therapy (ERT). Identifying Fabry cardiomyopathy in at-risk patients can lead to timely intervention and improved outcomes.

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