Publikace
- Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis2015 | 1. lékařská fakulta
- Unusual presentation of Kelley-Seegmiller syndrome2008 | 1. lékařská fakulta, 3. lékařská fakulta
- Unusual presentatïon of partial hypoxanthine phosphoribosyltransferase deficiency in a female patientPublikace bez příslušnosti k fakultě
- 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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