Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2

Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease

(2015) Blanka Stiburkova et al.   AMERICAN JOURNAL OF THE MEDICAL SCIENCES

New medications in development for the treatment of hyperuricemia of gout

(2015) Cesar Diaz-Torné et al.   CURRENT OPINION IN RHEUMATOLOGY

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) Dana Gabrikova et al.   Urolithiasis

Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9compound heterozygosity

(2014) Guido Jeannin et al.   BMC Medical Genetics

Expression of SLC2A9 Isoforms in the Kidney and Their Localization in Polarized Epithelial Cells

(2014) Toru Kimura et al.   PLoS One

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) Olha Hurba et al.   PLoS One

Hereditary Renal Hypouricemia: A New Role for Allopurinol?

(2013) Bhavna Bhasin et al.   AMERICAN JOURNAL OF MEDICINE

Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis

(2013) Blanka Stiburkova et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genome-Wide Association of Serum Uric Acid Concentration: Replication of Sequence Variants in an Island Population of the Adriatic Coast of Croatia

(2012) Rebekah Karns et al.   ANNALS OF HUMAN GENETICS

Acute kidney injury in two children caused by renal hypouricaemia type 2

(2012) Blanka Stiburkova et al.   PEDIATRIC NEPHROLOGY

Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I

(2011) Blanka Stiburkova et al.   CLINICA CHIMICA ACTA

Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia

(2011) Blanka Stiburkova et al.   MOLECULAR GENETICS AND METABOLISM

Diagnostic Tests for Primary Renal Hypouricemia

(2011) Ivan Sebesta et al.   NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS

Recurrent EIARF and PRES With Severe Renal Hypouricemia by Compound Heterozygous SLC2A9 Mutation

(2011) Y. Shima et al.   PEDIATRICS

Clinical and Functional Characterization of URAT1 Variants

(2011) Velibor Tasic et al.   PLoS One

URAT1 mutations cause renal hypouricemia type 1 in Iraqi Jews

(2010) D. Dinour et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese

(2009) K Ichida et al.   CLINICAL GENETICS

Homozygous SLC2A9 Mutations Cause Severe Renal Hypouricemia

(2009) D. Dinour et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mutations in Glucose Transporter 9 Gene SLC2A9 Cause Renal Hypouricemia

(2008) Hirotaka Matsuo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Plasma Urate Level Is Directly Regulated by a Voltage-driven Urate Efflux Transporter URATv1 (SLC2A9) in Humans

(2008) Naohiko Anzai et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study

(2008) Abbas Dehghan et al.   LANCET