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URAT1
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doc. Mgr. Ing. Blanka Stibůrková Ph.D.
Academic staff at First Faculty of Medicine
83 publications
Publications
publication
URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia
2018 |
First Faculty of Medicine
publication
Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2
2016 |
First Faculty of Medicine, Faculty of Science
publication
Prevalence of URAT1 allelic variants in the Roma population
2016 |
First Faculty of Medicine
publication
High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction
2015 |
First Faculty of Medicine
publication
Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease
2015 |
First Faculty of Medicine
publication
Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis
2013 |
First Faculty of Medicine, Third Faculty of Medicine, Faculty of Science
publication
Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia
2011 |
First Faculty of Medicine
publication
Analysis of hypouricemic patients with respect to the SLC22A12(URAT1) gene
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
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