- Functional Characterization of Rare Variants in OAT1/SLC22A6 and OAT3/SLC22A8 Urate Transporters Identified in a Gout and Hyperuricemia Cohort2022 | 1. lékařská fakulta, Přírodovědecká fakulta
- Familial early-onset hyperuricemia and gout associated with a newly identified dysfunctional variant in urate transporter ABCG22019 | 1. lékařská fakulta
- Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout2021 | 1. lékařská fakulta
- GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes2017 | 1. lékařská fakulta
- Evaluation of the Influence of Genetic Variants ofSLC2A9(GLUT9) andSLC22A12(URAT1) on the Development of Hyperuricemia and Gout2020 | 1. lékařská fakulta, Matematicko-fyzikální fakulta
- Functional non-synonymous variants of ABCG2 and gout risk2017 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients2019 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- 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 Gout2014 | 1. lékařská fakulta, Přírodovědecká fakulta
- Hypouricemia and hyperuricosuria in a pubescent girl: Questions & Answers2018 | 1. lékařská fakulta
- Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout2016 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Uromodulin in a Pathway Between Decreased Renal Urate Excretion and Albuminuria2019 | 1. lékařská fakulta
- Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort2019 | 1. lékařská fakulta, Přírodovědecká fakulta, Ústřední knihovna, Matematicko-fyzikální fakulta
- Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout2019 | 1. lékařská fakulta
- Diagnostický test primární renální hypourikémie.2011 | 1. lékařská fakulta
- Genetic Disorders Resulting in Hyper- or Hypouricemia2012 | 1. lékařská fakulta
- Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis2016 | 1. lékařská fakulta
- Konvenční a inovativní cesty k ovlivnění hyperurikemie2021 | 1. lékařská fakulta
- Analysis of Purine Metabolism to Elucidate the Pathogenesis of Acute Kidney Injury in Renal Hypouricemia2022 | 1. lékařská fakulta
- Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 22023 | 1. lékařská fakulta
- Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels2019 | 1. lékařská fakulta
- Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis2015 | 1. lékařská fakulta
- Clinical and Functional Characterization of a Novel URAT1 Dysfunctional Variant in a Pediatric Patient with Renal Hypouricemia2019 | 1. lékařská fakulta, Přírodovědecká fakulta
- Prevalence of URAT1 allelic variants in the Roma population2016 | 1. lékařská fakulta
- Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease2015 | 1. lékařská fakulta
- Purine disorders with hypouricemia2014 | 1. lékařská fakulta
- Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration2014 | 1. lékařská fakulta