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http://hdl.handle.net/20.500.12188/33613| Title: | Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis | Authors: | Gjorgjievski, Nikola Karanfilovski, Vlatko Arsov, Todor Dzekova Vidimliski, Pavlina Severova Andreevska, Galina Selim, GJulshen Dejanov, Petar Jordanova, Vasilena Marinova, Ivelina Paskalev, Emil Nikolov, Igor |
Keywords: | Fabry disease chronic kidney disease hemodialysis α-galactosidase A X-linked disorder |
Issue Date: | 2024 | Publisher: | Frontiers Media SA | Journal: | Frontiers in Genetics | Abstract: | Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency. Reduced or absent enzyme activity causes progressive lysosomal accumulation of globotriaosylceramide (Lyso-Gb3) in various cells throughout the body to trigger inflammation and fibrosis. | URI: | http://hdl.handle.net/20.500.12188/33613 | ISSN: | 1664-8021 | DOI: | 10.3389/fgene.2024.1415906 |
| Appears in Collections: | Faculty of Medicine: Journal Articles |
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