Article
Fabry Disease: Screening and Analysis of the Associated Clinical Manifestations in Patients Attending Dialysis and Nephrology Clinics in Durban, South Africa
2022-12-21
Abstract excerpt
<h4>Background: </h4> Fabry disease is inherited in an X-linked manner in which the mutated gene inhibits the functioning of the alpha-Galactosidase-A enzyme causing a deficiency or absence of the enzyme, characterising it as a progressive, lysosomal storage disorder. Subsequently, the accumulation of globotriaosylceramide (Gb3) in the lysosomes causes damage to tissues and major organs. Fabry nephropathy is one o...
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Identifiers and source
- Literature Corpus work
- b2693340-bd18-5f8b-b8a0-ca07ce911a96
- DOI
- 10.21203/rs.3.rs-2285030/v1