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Article

Diagnostic tests for primary renal hypouricemia.

Nucleosides, nucleotides & nucleic acids - 1 Dec 2011

Sebesta Ivan, Stiburkova Blanka, Bartl Josef, Ichida Kimiyoshi, Hosoyamada Makoto, Taylor Judy, Marinaki Anthony

Abstract excerpt

Primary renal hypouricemia is a genetic disorder characterized by defective renal uric acid (UA) reabsorption with complications such as nephrolithiasis and exercise-induced acute renal failure. The known causes are: defects in the SLC22A12 gene, encoding the human urate transporter 1 (hURAT1), and also impairment of voltage urate transporter (URATv1), encoded by SLC2A9 (GLUT9) gene. Diagnosis is based on...

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PMID: 22132965
DOI: 10.1080/15257770.2011.611483

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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