Publications
- URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia2018 | First Faculty of Medicine
- Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout2016 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 22016 | First Faculty of Medicine, Faculty of Science
- Prevalence of URAT1 allelic variants in the Roma population2016 | First Faculty of Medicine
- Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis2015 | First Faculty of Medicine
- 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 | First Faculty of Medicine
- Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease2015 | First Faculty of Medicine
- Hereditary Renal Hypouricemia: A New Role for Allopurinol?2014 | First Faculty of Medicine
- Purine disorders with hypouricemia2014 | First Faculty of Medicine
- Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis2013 | First Faculty of Medicine, Third Faculty of Medicine, Faculty of Science
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