Publications
- URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia2018 | First Faculty of Medicine
- GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes2017 | 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
- Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis2016 | First Faculty of Medicine
- Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration2014 | First Faculty of Medicine
- Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I2012 | First Faculty of Medicine
- Diagnostic tests for primary renal hypouricemia2011 | First Faculty of Medicine
- Unusual presentation of Kelley-Seegmiller syndrome2008 | First Faculty of Medicine, Third Faculty of Medicine
- Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes2003 | First Faculty of Medicine
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