Publikace
- URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia2018 | 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
- Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis2016 | 1. lékařská fakulta
- Prevalence of URAT1 allelic variants in the Roma population2016 | 1. lékařská fakulta
- Modern diagnostic approach to hereditary xanthinuria2015 | 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
- Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis2013 | 1. lékařská fakulta, 3. lékařská fakulta, Přírodovědecká 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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