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Article

Clinical and functional characterization of URAT1 variants.

PloS one - 1 Jan 2011

Tasic Velibor, Hynes Ann Marie, Kitamura Kenichiro, Cheong Hae Il, Lozanovski Vladimir J, Gucev Zoran, Jutabha Promsuk, Anzai Naohiko, Sayer John A

Abstract excerpt

Idiopathic renal hypouricaemia is an inherited form of hypouricaemia, associated with abnormal renal handling of uric acid. There is excessive urinary wasting of uric acid resulting in hypouricaemia. Patients may be asymptomatic, but the persistent urinary abnormalities may manifest as renal stone disease, and hypouricaemia may manifest as exercise induced acute kidney injury. Here we have identified Macedonian...

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PMID: 22194875
DOI: 10.1371/journal.pone.0028641
PMCID: PMC3241677

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