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Renal hypouricemia
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Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia
2011 |
First Faculty of Medicine
publication
Diagnostic tests for primary renal hypouricemia
2011 |
First Faculty of Medicine
publication
A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild 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
Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease
2015 |
First Faculty of Medicine
publication
Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population
2021 |
First Faculty of Medicine
publication
URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia
2018 |
First Faculty of Medicine
publication
Hereditary Renal Hypouricemia: A New Role for Allopurinol?
2014 |
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
Analysis of Purine Metabolism to Elucidate the Pathogenesis of Acute Kidney Injury in Renal Hypouricemia
2022 |
First Faculty of Medicine
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
Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2
2023 |
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, Faculty of Science, Third Faculty of Medicine
publication
An Unusual Cause of Exercise-Induced Acute Kidney Injury
2018 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Prevalence of URAT1 allelic variants in the Roma population
2016 |
First Faculty of Medicine
publication
Modified forearm ischemic test in hypouricemic patients
2020 |
First Faculty of Medicine
publication
Acute kidney injury in two children caused by renal hypouricaemia type 2
2012 |
First Faculty of Medicine
publication
Complex Analysis of Urate Transporters SLC2A9, SLC22A12 and Functional Characterization of Non-Synonymous Allelic Variants of GLUT9 in the Czech Population: No Evidence of Effect on Hyperuricemia and Gout
2014 |
First Faculty of Medicine, Faculty of Science
publication
Genetic Disorders Resulting in Hyper- or Hypouricemia
2012 |
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
Hereditary xanthinuria is not so rare disorder of purine metabolism
2018 |
First Faculty of Medicine