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RHUC
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Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2
2023 |
First Faculty of Medicine
publication
URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia
2018 |
First Faculty of Medicine
publication
Clinical and Functional Characterization of a Novel URAT1 Dysfunctional Variant in a Pediatric Patient with Renal Hypouricemia
2019 |
Faculty of Science, First Faculty of Medicine
publication
Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis
2013 |
Faculty of Science, First Faculty of Medicine, Third Faculty of Medicine
publication
Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease
2015 |
First Faculty of Medicine
publication
Prevalence of URAT1 allelic variants in the Roma population
2016 |
First Faculty of Medicine
publication
Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population
2021 |
First Faculty of Medicine