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Author

B. Stibůrková

h-index 31 View on Semantic Scholar

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Review Open access Aug 2026

Hereditary Renal Hypouricemia Caused by a Novel SLC2A9 Variant: Functional Characterization and Systematic Literature Review

Congenital renal hypouricemia (RHUC) is a heterogeneous inherited disorder characterized by impaired tubular uric acid transport with severe complications, such as acute kidney injury. Type 1 is caused by a loss-of-function mutation in the SLC22A12 gene (URAT1), type 2 in the SLC2A9 gene (GLUT9). We describe the clinic...

Jiří Vávra, Eliska Pacalova, K. Pavelcová et al. · 0 citations
Aug 2026

Beyond Uric Acid: Allantoin Reflects Oxidative Stress, Disease Burden, and Cardiovascular Comorbidities in Hyperuricemia and Gout.

Serum allantoin and the allantoin/UA ratio are elevated in hyperuricemia and gout, particularly in patients with tophaceous disease or concomitant arterial hypertension, supporting its role as a marker of oxidative stress burden.

L. Hasíková, Petr Kozlík, K. Kalíková et al. · 0 citations

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