Publikace
- URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia2018 | 1. lékařská fakulta
- Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease2015 | 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
- Interleukin-37: associations of plasma levels and genetic variants in gout2023 | 1. lékařská fakulta, Matematicko-fyzikální fakulta
- Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment2023 | 1. lékařská fakulta, Matematicko-fyzikální fakulta
- Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 22023 | 1. lékařská fakulta
- Association of Gout Polygenic Risk Score With Age at Disease Onset and Tophaceous Disease in European and Polynesian Men With Gout2023 | 1. lékařská fakulta
- Novel Somatic UBA1 Variant in a Patient With VEXAS Syndrome2023 | 1. lékařská fakulta
- Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis2022 | 1. lékařská fakulta, Přírodovědecká fakulta
- Functional Characterization of Rare Variants in OAT1/SLC22A6 and OAT3/SLC22A8 Urate Transporters Identified in a Gout and Hyperuricemia Cohort2022 | 1. lékařská fakulta, Přírodovědecká fakulta
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