Related references
Note: Only part of the references are listed.Distribution of serum uric acid levels and prevalence of hyper- and hypouricemia in a Korean general population of 172,970
Bon San Koo et al.
KOREAN JOURNAL OF INTERNAL MEDICINE (2021)
First clinical practice guideline for renal hypouricaemia: a rare disorder that aided the development of urate-lowering drugs for gout
Akiyoshi Nakayama et al.
RHEUMATOLOGY (2021)
Roma Ethnicity and Sex-Specific Associations of Serum Uric Acid with Cardiometabolic and Hepatorenal Health Factors in Eastern Slovakian Population: The HepaMeta Study
Maria Pallayova et al.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH (2020)
Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes
Do Hyeon Cha et al.
SCIENTIFIC REPORTS (2019)
An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia
Jana Lisyova et al.
BMC MEDICAL GENETICS (2018)
URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia
Felix Claverie-Martin et al.
CLINICA CHIMICA ACTA (2018)
Hypouricemia and hyperuricosuria in a pubescent girl: Questions & Answers
Blanka Stiburkova et al.
PEDIATRIC NEPHROLOGY (2018)
Hypouricemia and hyperuricosuria in a pubescent girl: Answers
Blanka Stiburkova et al.
PEDIATRIC NEPHROLOGY (2018)
Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2
Andrea Mancikova et al.
CLINICAL AND EXPERIMENTAL NEPHROLOGY (2016)
Prevalence of URAT1 allelic variants in the Roma population
Blanka Stiburkova et al.
NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS (2016)
Depletion of Uric Acid Due to SLC22A12 (URAT1) Loss-of-Function Mutation Causes Endothelial Dysfunction in Hypouricemia
Shinobu Sugihara et al.
CIRCULATION JOURNAL (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
Dana Gabrikova et al.
UROLITHIASIS (2015)
Hereditary Renal Hypouricemia: A New Role for Allopurinol?
Bhavna Bhasin et al.
AMERICAN JOURNAL OF MEDICINE (2014)
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
Olha Hurba et al.
PLOS ONE (2014)
HIGHER PREVALENCE OF NEPHROPATHY IN YOUNG ROMA FEMALES COMPARED WITH NON-ROMA FEMALES
Jaroslav Rosenberger et al.
CENTRAL EUROPEAN JOURNAL OF PUBLIC HEALTH (2014)
Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis
Blanka Stiburkova et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Changes in Serum Urate and Urate Excretion With Age
Blanka Stiburkova et al.
ADVANCES IN CHRONIC KIDNEY DISEASE (2012)
End-stage renal disease among Roma and non-Roma: Roma are at risk
Gabriel Kolvek et al.
INTERNATIONAL JOURNAL OF PUBLIC HEALTH (2012)
Acute kidney injury in two children caused by renal hypouricaemia type 2
Blanka Stiburkova et al.
PEDIATRIC NEPHROLOGY (2012)
Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia
Blanka Stiburkova et al.
MOLECULAR GENETICS AND METABOLISM (2011)
DIAGNOSTIC TESTS FOR PRIMARY RENAL HYPOURICEMIA
Ivan Sebesta et al.
NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS (2011)
Homozygous SLC2A9 Mutations Cause Severe Renal Hypouricemia
Dganit Dinour et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2010)
Mutations in Glucose Transporter 9 Gene SLC2A9 Cause Renal Hypouricemia
Hirotaka Matsuo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese
K. Ichida et al.
CLINICAL GENETICS (2008)
Causes of hypouricemia among outpatients
Guler Bugdayci et al.
LABMEDICINE (2008)
Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion
K Ichida et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2004)
Mutation history of the Roma/Gypsies
B Morar et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Molecular identification of a renal urate-anion exchanger that regulates blood urate levels
A Enomoto et al.
NATURE (2002)