Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review
Published 2014 View Full Article
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Title
Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review
Authors
Keywords
Idiopathic renal hypouricemia, Acute kidney injury, <em class=EmphasisTypeItalic >SLC2A9</em>, Gene mutation
Journal
BMC Pediatrics
Volume 14, Issue 1, Pages -
Publisher
Springer Nature
Online
2014-03-14
DOI
10.1186/1471-2431-14-73
References
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Note: Only part of the references are listed.- 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
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- 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
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- 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
- A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1
- (2011) Ayami Ochi et al. Clinical and Experimental Nephrology
- Two cases of nephrotic syndrome (NS)-induced acute kidney injury (AKI) associated with renal hypouricemia
- (2011) Y. Takeda et al. CLINICAL NEPHROLOGY
- A Case of Exercise-induced Acute Renal Failure with G774A Mutation in SCL22A12 Causing Renal Hypouricemia
- (2011) Yong Hyun Kim et al. JOURNAL OF KOREAN MEDICAL SCIENCE
- Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia
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- Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2
- (2011) D. Dinour et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- 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
- 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
- SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout
- (2008) Veronique Vitart et al. NATURE GENETICS
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