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Items: 1 to 20 of 104

1.

Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review.

Shen H, Feng C, Jin X, Mao J, Fu H, Gu W, Liu A, Shu Q, Du L.

BMC Pediatr. 2014 Mar 14;14:73. doi: 10.1186/1471-2431-14-73. Review.

2.

Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.

Jeannin G, Chiarelli N, Gaggiotti M, Ritelli M, Maiorca P, Quinzani S, Verzeletti F, Possenti S, Colombi M, Cancarini G.

BMC Med Genet. 2014 Jan 7;15:3. doi: 10.1186/1471-2350-15-3.

3.

Recurrent EIARF and PRES with severe renal hypouricemia by compound heterozygous SLC2A9 mutation.

Shima Y, Nozu K, Nozu Y, Togawa H, Kaito H, Matsuo M, Iijima K, Nakanishi K, Yoshikawa N.

Pediatrics. 2011 Jun;127(6):e1621-5. doi: 10.1542/peds.2010-2592. Epub 2011 May 2.

4.

Molecular background of urate transporter genes in patients with exercise-induced acute kidney injury.

Kaito H, Ishimori S, Nozu K, Shima Y, Nakanishi K, Yoshikawa N, Iijima K.

Am J Nephrol. 2013;38(4):316-20. doi: 10.1159/000355430. Epub 2013 Oct 4.

PMID:
24107611
5.

Homozygous SLC2A9 mutations cause severe renal hypouricemia.

Dinour D, Gray NK, Campbell S, Shu X, Sawyer L, Richardson W, Rechavi G, Amariglio N, Ganon L, Sela BA, Bahat H, Goldman M, Weissgarten J, Millar MR, Wright AF, Holtzman EJ.

J Am Soc Nephrol. 2010 Jan;21(1):64-72. doi: 10.1681/ASN.2009040406. Epub 2009 Nov 19.

6.

Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia.

Stiburkova B, Ichida K, Sebesta I.

Mol Genet Metab. 2011 Apr;102(4):430-5. doi: 10.1016/j.ymgme.2010.12.016. Epub 2011 Jan 4.

PMID:
21256783
7.

Posterior reversible encephalopathy syndrome with exercise-induced acute kidney injury in renal hypouricemia type 1.

Fujinaga S, Ito A, Nakagawa M, Watanabe T, Ohtomo Y, Shimizu T.

Eur J Pediatr. 2013 Nov;172(11):1557-60. doi: 10.1007/s00431-013-1986-7. Epub 2013 Mar 23.

PMID:
23525542
8.

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

Stiburkova B, Taylor J, Marinaki AM, Sebesta I.

Pediatr Nephrol. 2012 Aug;27(8):1411-5. doi: 10.1007/s00467-012-2174-0. Epub 2012 Apr 21.

PMID:
22527535
9.

Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.

Dinour D, Gray NK, Ganon L, Knox AJ, Shalev H, Sela BA, Campbell S, Sawyer L, Shu X, Valsamidou E, Landau D, Wright AF, Holtzman EJ.

Nephrol Dial Transplant. 2012 Mar;27(3):1035-41. doi: 10.1093/ndt/gfr419. Epub 2011 Aug 2.

10.

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

Stiburkova B, Sebesta I, Ichida K, Nakamura M, Hulkova H, Krylov V, Kryspinova L, Jahnova H.

Eur J Hum Genet. 2013 Oct;21(10):1067-73. doi: 10.1038/ejhg.2013.3. Epub 2013 Feb 6.

11.

Acute kidney injury after acute gastroenteritis in an infant with hereditary hypouricemia.

Kamei K, Ogura M, Ishimori S, Kaito H, Iijima K, Ito S.

Eur J Pediatr. 2014 Feb;173(2):247-9. doi: 10.1007/s00431-013-2010-y. Epub 2013 May 8.

PMID:
23652934
12.

Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease.

Stiburkova B, Stekrova J, Nakamura M, Ichida K.

Am J Med Sci. 2015 Oct;350(4):268-71. doi: 10.1097/MAJ.0000000000000550.

PMID:
26418379
13.

A case of exercise-induced acute renal failure with G774A mutation in SCL22A12 causing renal hypouricemia.

Kim YH, Cho JT.

J Korean Med Sci. 2011 Sep;26(9):1238-40. doi: 10.3346/jkms.2011.26.9.1238. Epub 2011 Sep 1.

14.

A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1.

Ochi A, Takei T, Ichikawa A, Kojima C, Moriyama T, Itabashi M, Mochizuki T, Taniguchi A, Nitta K.

Clin Exp Nephrol. 2012 Apr;16(2):316-9. doi: 10.1007/s10157-011-0557-3. Epub 2011 Nov 3.

PMID:
22045201
15.

Novel URAT1 mutations caused acute renal failure after exercise in two Chinese families with renal hypouricemia.

Li Z, Ding H, Chen C, Chen Y, Wang DW, Lv Y.

Gene. 2013 Jan 1;512(1):97-101. doi: 10.1016/j.gene.2012.09.115. Epub 2012 Oct 5.

PMID:
23043931
16.

Diagnostic tests for primary renal hypouricemia.

Sebesta I, Stiburkova B, Bartl J, Ichida K, Hosoyamada M, Taylor J, Marinaki A.

Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1112-6. doi: 10.1080/15257770.2011.611483.

PMID:
22132965
17.

URAT1 mutations cause renal hypouricemia type 1 in Iraqi Jews.

Dinour D, Bahn A, Ganon L, Ron R, Geifman-Holtzman O, Knecht A, Gafter U, Rachamimov R, Sela BA, Burckhardt G, Holtzman EJ.

Nephrol Dial Transplant. 2011 Jul;26(7):2175-81. doi: 10.1093/ndt/gfq722. Epub 2010 Dec 9.

18.

Two cases of nephrotic syndrome (NS)-induced acute kidney injury (AKI) associated with renal hypouricemia.

Takeda Y, Abe A, Nakanishi S, Umezu M, Hirano K, Hayakawa H, Ohno I, Ichida K, Yamaguchi Y, Hosoya T, Fukagawa M.

Clin Nephrol. 2011 Jul;76(1):78-82.

PMID:
21722610
19.

Identification of a hypouricemia patient with SLC2A9 R380W, a pathogenic mutation for renal hypouricemia type 2.

Chiba T, Matsuo H, Nagamori S, Nakayama A, Kawamura Y, Shimizu S, Sakiyama M, Hosoyamada M, Kawai S, Okada R, Hamajima N, Kanai Y, Shinomiya N.

Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):261-5. doi: 10.1080/15257770.2013.857781.

PMID:
24940677
20.

Two male siblings with hereditary renal hypouricemia and exercise-induced ARF.

Tanaka M, Itoh K, Matsushita K, Matsushita K, Wakita N, Adachi M, Nonoguchi H, Kitamura K, Hosoyamada M, Endou H, Tomita K.

Am J Kidney Dis. 2003 Dec;42(6):1287-92.

PMID:
14655203
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