Associated Papers
Phenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience.
Rusu EE et al.
Genes, 2025
Annual change in eGFR in renal hypouricemia: a retrospective pilot study.
Sugihara S et al.
Clinical and Experimental Nephrology, 2025
Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China.
Mou L et al.
Molecular Diagnosis & Therapy, 2024
Characterization of Urate Metabolism and Complications of Patients with Renal Hypouricemia.
Miyazaki S et al.
Internal Medicine (tokyo, Japan), 2023
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
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
Genetic Heterogeneity of SLC22 Family of Transporters in Drug Disposition.
Lozano E et al.
Journal of Personalized Medicine, 2018
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
28008999 (PubMed )
Supplement: srep39831-s2.xls › _Table_S6
Discovery of URAT1 SNPs and association between serum uric acid levels and URAT1.
Cho SK et al.
Bmj Open, 2015
A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1.
Ochi A et al.
Clinical and Experimental Nephrology, 2012
Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese.
Ichida K et al.
Clinical Genetics, 2008
Absence of SLC22A12 gene mutations in Greek Caucasian patients with primary renal hypouricaemia.
Tzovaras V et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2007
Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion.
Ichida K et al.
Journal of the American Society of Nephrology : Jasn, 2004
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