- Nález nové homozygotní inzerce v genu SLC2A9 způsobující renální hypourikémii.2011 | 1. lékařská fakulta
- Acute kidney injury in two children caused by renal hypouricaemia type 22012 | 1. lékařská fakulta
- 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
- Diagnostický test primární renální hypourikémie.2011 | 1. lékařská fakulta
- Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 22016 | 1. lékařská fakulta, Přírodovědecká fakulta
- URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia2018 | 1. lékařská fakulta
- Uromodulin in a Pathway Between Decreased Renal Urate Excretion and Albuminuria2019 | 1. lékařská fakulta
- Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis2013 | 1. lékařská fakulta, Přírodovědecká fakulta, 3. lékařská fakulta
- Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis2016 | 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
- Clinical and Functional Characterization of a Novel URAT1 Dysfunctional Variant in a Pediatric Patient with Renal Hypouricemia2019 | 1. lékařská fakulta, Přírodovědecká fakulta
- Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population2021 | 1. lékařská fakulta
- 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 reaction2015 | 1. lékařská fakulta
- Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease2015 | 1. lékařská fakulta
- Purine disorders with hypouricemia2014 | 1. lékařská fakulta
- A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia2018 | 1. lékařská fakulta
- Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout2019 | 1. lékařská fakulta
- Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration2014 | 1. lékařská fakulta