2022
DOI: 10.14713/arestyrurj.v1i4.205
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Cystinuria: Genetic Aspects and Novel Pharmacotherapeutics

Abstract: This review provides an overview of the ge-netic aspects of cystinuria, as well as the novel pharmacotherapeutics that could potentially be used to treat the disease. Cystinuria is an inherited disorder characterized by the formation of painful stones in the kidneys, bladder, and other parts of the renal system. Currently, mutations responsible for cystinuria have been identified in two genes (SLC3A1 and SLC7A9 ), and cystinuria patients are catego-rized based on their genotypes - which versions, or alleles, o… Show more

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