Publications
- Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout2016 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis2015 | First Faculty of Medicine
- Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration2014 | First Faculty of Medicine
- Purine disorders with hypouricemia2014 | First Faculty of Medicine
- Partial deficiency of HGPRT in a girlPublication without faculty affiliation
- Interleukin-37: associations of plasma levels and genetic variants in gout2023 | First Faculty of Medicine, Faculty of Mathematics and Physics
- Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment2023 | First Faculty of Medicine, Faculty of Mathematics and Physics
- Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 22023 | First Faculty of Medicine
- Association of Gout Polygenic Risk Score With Age at Disease Onset and Tophaceous Disease in European and Polynesian Men With Gout2023 | First Faculty of Medicine
- Novel Somatic UBA1 Variant in a Patient With VEXAS Syndrome2023 | First Faculty of Medicine
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