Publikace
- URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia2018 | 1. lékařská fakulta
- Functional non-synonymous variants of ABCG2 and gout risk2017 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes2017 | 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
- Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 22016 | 1. lékařská fakulta, Přírodovědecká fakulta
- Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis2016 | 1. lékařská fakulta
- Modern diagnostic approach to hereditary xanthinuria2015 | 1. lékařská fakulta
- Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis2015 | 1. lékařská fakulta
- Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration2014 | 1. lékařská fakulta
- Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I2012 | 1. lékařská fakulta
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