Article
Prevalence of Fabry disease in Iraq
2022-07-29
Abstract excerpt
<h4>Background: </h4> : Fabry disease occurs due to mutations in the α-galactosidase A (GLA) gene present in the X-chromosome, which results in α-galactosidase A (α-GAL A) enzyme deficiency, leading to the intracellular accumulation of glycosphingolipids like globotriaosylceramide (Gb3). It involves multiorgan dysfunction, particularly affecting kidneys, heart, and central and peripheral nervous system. We intende...
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Identifiers and source
- Literature Corpus work
- 9d5171f5-f85a-5eb8-8f63-de16ced291b4
- DOI
- 10.12688/f1000research.123201.1