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Hypouricemia
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Purine disorders with hypouricemia
2014 |
First Faculty of Medicine
publication
Genetic Disorders Resulting in Hyper- or Hypouricemia
2012 |
First Faculty of Medicine
publication
Diagnostic tests for primary renal hypouricemia
2011 |
First Faculty of Medicine
publication
Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia
2011 |
First Faculty of Medicine
publication
Analysis of Purine Metabolism to Elucidate the Pathogenesis of Acute Kidney Injury in Renal Hypouricemia
2022 |
First Faculty of Medicine
publication
Hypouricemia and hyperuricosuria in a pubescent girl: Questions & Answers
2018 |
First Faculty of Medicine
publication
A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia
2018 |
First Faculty of Medicine
publication
Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population
2021 |
First Faculty of Medicine
publication
Differentiation of unexplained hypouricemia
Publication without faculty affiliation
publication
Clinical and Functional Characterization of a Novel URAT1 Dysfunctional Variant in a Pediatric Patient with Renal Hypouricemia
2019 |
First Faculty of Medicine, Faculty of Science
publication
Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2
2016 |
First Faculty of Medicine, Faculty of Science
publication
Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease
2015 |
First Faculty of Medicine
publication
URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia
2018 |
First Faculty of Medicine
publication
Hereditary Renal Hypouricemia: A New Role for Allopurinol?
2014 |
First Faculty of Medicine
publication
Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I
2012 |
First Faculty of Medicine
publication
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 reaction
2015 |
First Faculty of Medicine
publication
Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2
2023 |
First Faculty of Medicine
publication
Modified forearm ischemic test in hypouricemic patients
2020 |
First Faculty of Medicine
publication
Hereditary xanthinuria is not so rare disorder of purine metabolism
2018 |
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 |
First Faculty of Medicine, Faculty of Science, Third Faculty of Medicine
publication
An Unusual Cause of Exercise-Induced Acute Kidney Injury
2018 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Prevalence of URAT1 allelic variants in the Roma population
2016 |
First Faculty of Medicine
publication
Acute kidney injury in two children caused by renal hypouricaemia type 2
2012 |
First Faculty of Medicine
publication
Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II)
2018 |
First Faculty of Medicine
publication
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 Gout
2014 |
First Faculty of Medicine, Faculty of Science
publication
Diagnostic guideline for hyperuricemia
Publication without faculty affiliation
publication
Diagnostic approach to unexplained hypouricemi
Publication without faculty affiliation
publication
Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration
2014 |
First Faculty of Medicine
publication
Controversies in the treatment of gout
2018 |
Publication without faculty affiliation