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Updated: May 13, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Gastroenterological complications of Anderson-Fabry disease
Piotr Buda1, Janusz Książyk, Anna Tylki-Szymanska
1The Children's Memorial Health Institute, Department of Pediatrics, 04-730 Al. Dzieci Polskich, Warsaw, Poland. piotrbuda@plusnet.pl.
Abstract:
Fabry disease is a multisystemic X-linked lysosomal storage disorder, caused by the partial or complete deficiency of alpha-galactosidase A activity. The storage of glycosphingolipids in the vascular endothelium and in various tissues can lead to a broad spectrum of clinical manifestations. Renal failure, cardiovascular disease, and strokes are the main causes of morbidity and mortality. Gastrointestinal symptoms, although common, are often under-reported in the literature. This review covers the gastroenterological aspects of Fabry disease.
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