Associated Papers
Renal Hypouricemia Type 2 due to a Novel Homozygous SLC2A9 Variant: Exercise-Induced Acute Kidney Injury in One of Two Affected Siblings.
Pezantes I et al.
Nephrology (carlton, Vic.), 2026
Gitelman Syndrome in the Sixth Decade: An Atypical Presentation with Severe Electrolyte Abnormalities and Genetic Heterogeneity.
Shivnitwar S et al.
Annals of African Medicine, 2025
Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China.
Mou L et al.
Molecular Diagnosis & Therapy, 2024
Recurrent exercise-induced acute kidney injury associated with hypouricemia: a case report and literature review.
Zhou J et al.
Bmc Nephrology, 2023
New SLC22A12 (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions.
Perdomo-Ramírez A et al.
Genes, 2023
Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M).
Perdomo-Ramirez A et al.
International Journal of Molecular Sciences, 2023
Genetic Basis of the Epidemiological Features and Clinical Significance of Renal Hypouricemia.
Hakoda M et al.
Biomedicines, 2022
Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population.
Stiburkova B et al.
Biomedicines, 2021
The impact of an URAT1 polymorphism on the losartan treatment of hypertension and hyperuricemia.
Wu L et al.
Journal of Clinical Laboratory Analysis, 2021
Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia.
Yoon J et al.
Biomedicines, 2021
Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout.
Toyoda Y et al.
International Journal of Molecular Sciences, 2021
Evaluation of the Influence of Genetic Variants of SLC2A9 (GLUT9) and SLC22A12 (URAT1) on the Development of Hyperuricemia and Gout.
Pavelcova K et al.
Journal of Clinical Medicine, 2020
Polygenic analysis of the effect of common and low-frequency genetic variants on serum uric acid levels in Korean individuals.
Cho SK et al.
Scientific Reports, 2020
Contribution of Rare Variants of the SLC22A12 Gene to the Missing Heritability of Serum Urate Levels.
Misawa K et al.
Genetics, 2020
Donor-derived hypouricemia in irrelevant recipients caused by kidney transplantation.
Teng L et al.
Annals of Translational Medicine, 2020
A population-specific low-frequency variant of SLC22A12 (p.W258*) explains nearby genome-wide association signals for serum uric acid concentrations among Koreans.
Im SW et al.
Plos One, 2020
Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels.
Tin A et al.
Nature Communications, 2018
Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.
Zhou Z et al.
Bmc Medical Genetics, 2018
A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia.
Vidanapathirana DM et al.
Bmc Pediatrics, 2018
URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia.
Claverie-Martin F et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Uric acid, an important screening tool to detect inborn errors of metabolism: a case series.
Jasinge E et al.
Bmc Research Notes, 2017
Prevalence of URAT1 allelic variants in the Roma population.
Stiburkova B et al.
Nucleosides, Nucleotides & Nucleic Acids, 2016
Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2.
Mancikova A et al.
Clinical and Experimental Nephrology, 2016
Discovery of URAT1 SNPs and association between serum uric acid levels and URAT1.
Cho SK et al.
Bmj Open, 2015
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.
Gabrikova D et al.
Urolithiasis, 2015
Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease.
Stiburkova B et al.
The American Journal of the Medical Sciences, 2015
Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.
Stiburkova B et al.
European Journal of Human Genetics : Ejhg, 2013
Additive Association of ABCG2 rs4148155 and SLC22A12 rs75786299 Polymorphisms with Hyperuricemia, Gout, and Nephrolithiasis: A Hospital-Based, Case-Control Study.
Lin CT et al.
Kidney Diseases (basel, Switzerland), 0