@Article{Rydzewska-Rosołowska2023,
journal="Gastroenterology Review/Przegląd Gastroenterologiczny",
issn="1895-5770",
volume="18",
number="4",
year="2023",
title="Fabry disease – what a gastroenterologist should know",
abstract="Fabry disease is a rare, X-linked metabolic error caused by various mutations in the -galactosidase A gene, which results in the accumulation of glycosphingolipids. Gastrointestinal symptoms are quite common in affected patients; therefore, it is important for gastroenterologists to keep it in mind as a differential diagnosis for especially challenging patients. The following review provides concise information on epidemiology and genetics, signs, and symptoms of the disease, focusing on the gastrointestinal (GI) tract, providing a brief overview of the diagnostic process and the available treatment, both disease specific and supportive, again with a focus on alleviation of gastrointestinal symptoms.",
author="Rydzewska-Rosołowska, Alicja
and Hryszko, Tomasz",
pages="368--372",
doi="10.5114/pg.2023.133516",
url="http://dx.doi.org/10.5114/pg.2023.133516"
}