Publikace
- Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout2016 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 22016 | 1. lékařská fakulta, Přírodovědecká fakulta
- Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis2015 | 1. lékařská fakulta
- Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration2014 | 1. lékařská fakulta
- Interleukin-37: associations of plasma levels and genetic variants in gout2023 | 1. lékařská fakulta, Matematicko-fyzikální fakulta
- Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment2023 | 1. lékařská fakulta, Matematicko-fyzikální fakulta
- Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 22023 | 1. lékařská fakulta
- Association of Gout Polygenic Risk Score With Age at Disease Onset and Tophaceous Disease in European and Polynesian Men With Gout2023 | 1. lékařská fakulta
- Novel Somatic UBA1 Variant in a Patient With VEXAS Syndrome2023 | 1. lékařská fakulta
- Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis2022 | 1. lékařská fakulta, Přírodovědecká fakulta
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