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Updated: Jun 8, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
[Females with Fabry's disease - an interdisciplinary diagnostic and therapeutic challenge]
Frank Weidemann1, Markus Niemann, Claudia Sommer
1Medizinische Klinik und Poliklinik I, Universitätsklinik Würzburg, Würzburg, Germany. Weidemann_F@medizin.uni-wuerzburg.de
Abstract:
Fabry's disease is a rare genetic storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of various organs. Being X-chromosomal-linked, most studies in the past focused on involvement in male patients. However, it has been elucidated recently that female patients can present typical organ involvement and, thus, have to be treated respectively. This synopsis wants to systematically review the typical organ involvement in female Fabry patients. Moreover, therapy recommendations especially for female patients are discussed.
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