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Urate transport
Publication
Class
Person
Publication
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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
Familial early-onset hyperuricemia and gout associated with a newly identified dysfunctional variant in urate transporter ABCG2
2019 |
First Faculty of Medicine
publication
Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout
2021 |
First Faculty of Medicine
publication
GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes
2017 |
First Faculty of Medicine
publication
Evaluation of the Influence of Genetic Variants ofSLC2A9(GLUT9) andSLC22A12(URAT1) on the Development of Hyperuricemia and Gout
2020 |
First Faculty of Medicine, Faculty of Mathematics and Physics
publication
Functional non-synonymous variants of ABCG2 and gout risk
2017 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients
2019 |
First Faculty of Medicine, Faculty of Physical Education and Sport
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
Hypouricemia and hyperuricosuria in a pubescent girl: Questions & Answers
2018 |
First Faculty of Medicine
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
Uromodulin in a Pathway Between Decreased Renal Urate Excretion and Albuminuria
2019 |
First Faculty of Medicine
publication
Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort
2019 |
First Faculty of Medicine, Faculty of Science, Central Library of Charles University, Faculty of Mathematics and Physics
publication
Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout
2019 |
First Faculty of Medicine
publication
Diagnostic tests for primary renal hypouricemia
2011 |
First Faculty of Medicine
publication
Genetic Disorders Resulting in Hyper- or Hypouricemia
2012 |
First Faculty of Medicine
publication
Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis
2016 |
First Faculty of Medicine
publication
Conventional and innovative ways to influence hyperuricemia
2021 |
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
Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2
2023 |
First Faculty of Medicine
publication
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels
2019 |
First Faculty of Medicine
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
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
Prevalence of URAT1 allelic variants in the Roma population
2016 |
First Faculty of Medicine
publication
Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease
2015 |
First Faculty of Medicine
publication
Purine disorders with hypouricemia
2014 |
First Faculty of Medicine
publication
Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration
2014 |
First Faculty of Medicine