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M. Fukuki

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Case report Open access Oct 2026

A case of renal hypouricemia type 1 associated with compound heterozygous URAT1/SLC22A12 variants A209V and F379L: clinical evidence for their pathogenic significance

The severe hypouricemia and excessive urinary uric acid excretion observed in this patient provide clinical evidence supporting the pathogenic significance of the A209V and F379L combination and suggest that urinary alkalization may be beneficial in the management of nephrolithiasis associated with RHUC.

N. Otani, M. Yamamoto, T. Takata et al. · 0 citations

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