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collaborative analysis
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doc. Mgr. Ing. Blanka Stibůrková Ph.D.
Academic staff at First Faculty of Medicine
83 publications
Publications
publication
Interleukin-37: associations of plasma levels and genetic variants in gout
2023 |
First Faculty of Medicine, Faculty of Mathematics and Physics
publication
Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment
2023 |
First Faculty of Medicine, Faculty of Mathematics and Physics
publication
Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2
2023 |
First Faculty of Medicine
publication
Association of Gout Polygenic Risk Score With Age at Disease Onset and Tophaceous Disease in European and Polynesian Men With Gout
2023 |
First Faculty of Medicine
publication
Novel Somatic UBA1 Variant in a Patient With VEXAS Syndrome
2023 |
First Faculty of Medicine
publication
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis
2022 |
First Faculty of Medicine, Faculty of Science
publication
Functional Characterization of Rare Variants in OAT1/SLC22A6 and OAT3/SLC22A8 Urate Transporters Identified in a Gout and Hyperuricemia Cohort
2022 |
First Faculty of Medicine, Faculty of Science
publication
The Examination of a TPMT Gene Before Administration of Azathioprine in Rheumatology Practice and Identification of a Novel Variant p.W29R
2022 |
First Faculty of Medicine
publication
Analysis of Purine Metabolism to Elucidate the Pathogenesis of Acute Kidney Injury in Renal Hypouricemia
2022 |
First Faculty of Medicine
publication
Circulating microRNA alternations in primary hyperuricemia and gout
2021 |
First Faculty of Medicine, Faculty of Science, Faculty of Mathematics and Physics
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