A novel homozygous GLUT9 mutation cause recurrent exercise-induced acute renal failure and posterior reversible encephalopathy syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Nephrology
Link
http://link.springer.com/content/pdf/10.1007/s40620-014-0073-0.pdf
Reference16 articles.
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2. Dinour D, Gray NK, Ganon L et al (2012) Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. Nephrol Dial Transpl 27(3):1035–1041
3. Shima Y, Nozu K, Nozu Y et al (2011) Recurrent EIARF and PRES with severe renal hypouricemia by compound heterozygous SLC2A9 mutation. Pediatrics 127(6):e1621–e1625
4. Anzai N, Ichida K, Jutabha P et al (2008) Plasma urate level is directly regulated by a voltage-driven urate efflux transporter URAT1 (SLC2A9) in humans. J Biol Chem 283(40):26834–26838
5. Matsuo H, Chiba T, Nagamori S et al (2008) Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. Am J Hum Genet 83(6):744–751
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