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Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population

3 Nov 2021

Abstract excerpt

Renal hypouricemia (RHUC) is caused by an inherited defect in the main reabsorption system of uric acid, SLC22A12 (URAT1) and SLC2A9 (GLUT9). RHUC is characterized by a decreased serum uric acid concentration and an increase in its excreted fraction. Patients suffer from hypouricemia, hyperuricosuria, urolithiasis, and even acute kidney injury. We report clinical, biochemical, and genetic findings in a cohort...

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PMID: 34829836
DOI: 10.3390/biomedicines9111607

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