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purines
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doc. Mgr. Ing. Blanka Stibůrková Ph.D.
Academic staff at First Faculty of Medicine
83 publications
Publications
publication
Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout
2016 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis
2015 |
First Faculty of Medicine
publication
Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration
2014 |
First Faculty of Medicine
publication
Purine disorders with hypouricemia
2014 |
First Faculty of Medicine
publication
Human adenylosuccinate lyase (ADSL), cloning and characterization of full-lenght cDNA and its isoform, gene structure and bomelular basis for ADSL deficiency in six patients
2000 |
First Faculty of Medicine
publication
Partial deficiency of HGPRT in a girl
Publication without faculty affiliation
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
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