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Updated: May 27, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Interdisciplinary approach towards female patients with Fabry disease
Frank Weidemann1, Markus Niemann, Claudia Sommer
1Medizinische Klinik und Poliklinik I, Universitätsklinik Würzburg, Würzburg, Germany. weidemann_f@medizin.uni-wuerzburg.de
Background:
Fabry disease (FD) is a rare X-linked lysosomal storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of various organs.
Design:
Being X-chromosomal-linked, most studies in the past have focused on involvement in male patients. However, it has been elucidated recently that female patients can present typical organ involvement and thus need to be treated, respectively.
Conclusions:
This review wants to give a systematical overview of the typical organ involvement in female patients with FD. Moreover, therapy recommendations especially for female patients are discussed.
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