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uric acid transporters
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A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia
2018 |
First Faculty of Medicine
publication
Acute kidney injury in two children caused by renal hypouricaemia type 2
2012 |
First Faculty of Medicine
publication
Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia
2011 |
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
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Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease
2015 |
First Faculty of Medicine
publication
Diagnostic tests for primary renal hypouricemia
2011 |
First Faculty of Medicine
publication
The relationship of uremic toxin indoxyl sulfate and intestinal elimination mechanisms in hemodialysis patients
2023 |
Faculty of Medicine in Hradec Králové
publication
Clinical and Functional Characterization of a Novel URAT1 Dysfunctional Variant in a Pediatric Patient with Renal Hypouricemia
2019 |
First Faculty of Medicine, Faculty of Science
publication
URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia
2018 |
First Faculty of Medicine
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
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
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