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Updated: Jan 20, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease

Dominique P Germain1,2,3, Fatma Al-Jasmi4, Gheona Altarescu5

  • 1Division of Medical Genetics, University of Versailles, Montigny, France.

Genetics in Medicine Open
|January 19, 2026
PubMed
Abstract

No abstract available in PubMed .

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