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Updated: Jun 20, 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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The c.-265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identified
Stefania Zampieri1, Silvia Cattarossi1, Lorenzo Ferri2
1Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy.
Clinical Genetics
|July 18, 2024
Abstract:
Here, we report the identification and functional characterization of a novel GLA variant, not detectable by routine molecular tests, in a family with FD suspicion.
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