Publications
- URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia2018 | First Faculty of Medicine
- Prevalence of URAT1 allelic variants in the Roma population2016 | First Faculty of Medicine
- Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease2015 | 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
- Interleukin-37: associations of plasma levels and genetic variants in gout2023 | First Faculty of Medicine, Faculty of Mathematics and Physics
- Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment2023 | First Faculty of Medicine, Faculty of Mathematics and Physics
- Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 22023 | First Faculty of Medicine
- Association of Gout Polygenic Risk Score With Age at Disease Onset and Tophaceous Disease in European and Polynesian Men With Gout2023 | First Faculty of Medicine
- Novel Somatic UBA1 Variant in a Patient With VEXAS Syndrome2023 | First Faculty of Medicine
- Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis2022 | First Faculty of Medicine, Faculty of Science
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