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45749148717
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Hyperuricaemia - Where nephrology meets rheumatology
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DOI 10.1093/rheumatology/ken070
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Arram Z, Krishnan E. Hyperuricaemia: Where nephrology meets rheumatology. Rheumatology 2008; 47:960-964. (Pubitemid 351865915)
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Rheumatology
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Avram, Z.1
Krishnan, E.2
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2
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55249096942
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Plasma urate level is directly regulated by a voltage-driven urate efflux transporter URAT1 (SLC2A9) in humans
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Anzai N, Ichida K, Jutabha P, et al. Plasma urate level is directly regulated by a voltage-driven urate efflux transporter URAT1 (SLC2A9) in humans. J Biol Chem 2008; 283:26834-26838.
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Anzai, N.1
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Renal handling of uric acid in normal and gouty subjects: Evidence for a 4-component system
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Levinson D, Sorensen LB. Renal handling of uric acid in normal and gouty subjects: Evidence for a 4-component system. Ann Rheum Dis 1980; 39:173-179. (Pubitemid 10111779)
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Annals of the Rheumatic Diseases
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Levinson, D.J.1
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Hypouricaemia and increased renal urate clearance associated with hyperparathyroidism
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Gibson T, Sims HP, Jimenez SA. Hypouricaemia and increased renal urate clearance associated with hyperparathyroidism. Ann rheum Dis 1976; 35:372-376.
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Gibson, T.1
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Renal impairment and gout
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Gibson T, Highton J, Potter C, et al. Renal impairment and gout. Ann Rheum Dis 1980; 39:417-423. (Pubitemid 10005929)
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Annals of the Rheumatic Diseases
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Gibson, T.1
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Beer drinking and its effect on uric acid
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Gibson T, Rodgers A, Simmonds H, Toseland P. Beer drinking and its effect on uric acid. Br J Rheumatol 1984; 23:203-209. (Pubitemid 14089882)
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British Journal of Rheumatology
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Gibson, T.1
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Simmonds, H.A.3
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Association of three genetic loci with uric acid concentration and risk of gout: A genome-wide association study
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Dehgan A, Kottgen A, Yang Q, et al. Association of three genetic loci with uric acid concentration and risk of gout: A genome-wide association study. Lancet 2008; 372:1953-1961.
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Dehgan, A.1
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Role of the urate transporter SLC2A9 gene in susceptibility to gout in New Zealand Maori, Pacific Island and Caucasian case-control sample sets
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Hollis-Moffat JE, Xu X, Dalbeth N, et al. Role of the urate transporter SLC2A9 gene in susceptibility to gout in New Zealand Maori, Pacific Island and Caucasian case-control sample sets. Arthritis Rheum 2009; 60:3485-3492.
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Hollis-Moffat, J.E.1
Xu, X.2
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9
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77951557511
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Associations of a nonsynonymous variant in SLC2A9 with gouty arthritis and uric acid levels in Han Chinese subjects and Solomon Islanders
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Using four SNPs of the SLC2A9 gene which codes for the renal tubular transporter GLUT9, an association with gout susceptibility was identified in Han Chinese and Melanesian populations
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Tu HP, Chen CJ, Tovosia S, et al. Associations of a nonsynonymous variant in SLC2A9 with gouty arthritis and uric acid levels in Han Chinese subjects and Solomon Islanders. Ann Rheum Dis 2010; 69:887-890. Using four SNPs of the SLC2A9 gene which codes for the renal tubular transporter GLUT9, an association with gout susceptibility was identified in Han Chinese and Melanesian populations.
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Ann Rheum Dis
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Tu, H.P.1
Chen, C.J.2
Tovosia, S.3
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10
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41349103917
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SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout
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DOI 10.1038/ng.106, PII NG106
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Vitart V, Rudan I, Hayward C, et al. SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. Nat Genet 2008; 40:437-442. (Pubitemid 351450879)
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Nature Genetics
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Vitart, V.1
Rudan, I.2
Hayward, C.3
Gray, N.K.4
Floyd, J.5
Palmer, C.N.A.6
Knott, S.A.7
Kolcic, I.8
Polasek, O.9
Graessler, J.10
Wilson, J.F.11
Marinaki, A.12
Riches, P.L.13
Shu, X.14
Janicijevic, B.15
Smolej-Narancic, N.16
Gorgoni, B.17
Morgan, J.18
Campbell, S.19
Biloglav, Z.20
Barac-Lauc, L.21
Pericic, M.22
Klaric, I.M.23
Zgaga, L.24
Skaric-Juric, T.25
Wild, S.H.26
Richardson, W.A.27
Hohenstein, P.28
Kimber, C.H.29
Tenesa, A.30
Donnelly, L.A.31
Fairbanks, L.D.32
Aringer, M.33
McKeigue, P.M.34
Ralston, S.H.35
Morris, A.D.36
Rudan, P.37
Hastie, N.D.38
Campbell, H.39
Wright, A.F.40
more..
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11
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79955148941
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Associations between SLC2A9 transporter gene variants and uric acid photypes in African American and white families
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Fifty-three SNPs of SLC2A9 gene were associated with serum urate in black and 63 in white American populations but could not be linked to renal urate excretion
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Rule A, de Andrade M, Matsumoto M, et al. Associations between SLC2A9 transporter gene variants and uric acid photypes in African American and white families. Rheumatology 2011; 50:871-878. Fifty-three SNPs of SLC2A9 gene were associated with serum urate in black and 63 in white American populations but could not be linked to renal urate excretion.
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(2011)
Rheumatology
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Rule, A.1
De Andrade, M.2
Matsumoto, M.3
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12
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0037161834
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Molecular identification of a renal urate-anion exchanger that regulates blood urate levels
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DOI 10.1038/nature742
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Enomoto A, Ki mura H, Chairoungdua A, et al. Molecular identification of a renal urate anion exchanger that regulates blood urate levels. Nature 2002; 417:447-452. (Pubitemid 34563537)
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Enomoto, A.1
Kimura, H.2
Chairoungdua, A.3
Shigeta, Y.4
Jutabha, P.5
Cha, S.H.6
Hosoyamada, M.7
Takeda, M.8
Sekine, T.9
Igarashi, T.10
Matsuo, H.11
Kikuchi, Y.12
Oda, T.13
Ichida, K.14
Hosoya, T.15
Shimokata, K.16
Niwa, T.17
Kanai, Y.18
Endou, H.19
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13
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49549119581
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Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese
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Ichida K, Hosoyamada M, Kamatani N, et al. Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese. Clinic Genet 2008; 74:243-251.
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Clinic Genet
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Ichida, K.1
Hosoyamada, M.2
Kamatani, N.3
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14
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75149114710
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Homozygous SLC2A9 mutations cause severe renal hypouricemia
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Homozygous mutations of the SLC2A9 gene were associated with hereditary hypouricemia in a single family similar to earlier descriptions of mutations of the SLC22A12 gene which encodes for the first transporter to be described, URAT1
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Dinour D, Gray Nk, Campbell S, et al. Homozygous SLC2A9 mutations cause severe renal hypouricemia. J Am Soc Nephrol 2010; 21:4-72. Homozygous mutations of the SLC2A9 gene were associated with hereditary hypouricemia in a single family similar to earlier descriptions of mutations of the SLC22A12 gene which encodes for the first transporter to be described, URAT1.
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(2010)
J Am Soc Nephrol
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Dinour, D.1
Gray, N.K.2
Campbell, S.3
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17
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77954536220
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Childhood course of renal insufficiency in a family with a uromodulin gene mutation
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Schaffer P, Gombos E, Meichelbeck K, et al. Childhood course of renal insufficiency in a family with a uromodulin gene mutation. Pediatr Nephrol 2010; 25:1355-1360.
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Pediatr Nephrol
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Schaffer, P.1
Gombos, E.2
Meichelbeck, K.3
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18
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78449270818
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A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea
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Lee D, Kim J, Oh S, et al. A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea. J Korean Med Sci 2010; 25:1680-1682.
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J Korean Med Sci
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Lee, D.1
Kim, J.2
Oh, S.3
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19
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77952478220
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Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression
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The uromodulin gene (UMOD) was shown to be expressed on the cilia of proximal tubules and was reduced in amount compared with normals in renal biopsies of patients with uromodulin-related nephropathy
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Zaucke F, Boehnlein J, Steffens, et al. Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression Hum Mol Genet 2010; 15:1985-1997. The uromodulin gene (UMOD) was shown to be expressed on the cilia of proximal tubules and was reduced in amount compared with normals in renal biopsies of patients with uromodulin-related nephropathy.
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Hum Mol Genet
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Zaucke, F.1
Boehnlein J Steffens2
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20
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78651236983
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Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus FJHN3 linked to chromosome 2p22.11-p21
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In a genome-wide linkage study of uromodulin-related FJHN, a novel locus was identified on chromosome 2p22.1021
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Piret S, Danoy P, Dahan K, et al. Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus FJHN3 linked to chromosome 2p22.11-p21. Hum Genet 2011; 129:51-58. In a genome-wide linkage study of uromodulin-related FJHN, a novel locus was identified on chromosome 2p22.1021.
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Hum Genet
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Piret, S.1
Danoy, P.2
Dahan, K.3
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21
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The effect of acid loading on renal excretion of uric acid and ammonium in gout
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A role for uric acid in the progression of renal disease
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DOI 10.1097/01.ASN.0000034910.58454.FD
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Kang D, Nakagawa T, Fen L, et al. A role for uric acid in the progression of renal disease. J Am Soc Nephrol 2002; 13:2888-2897. (Pubitemid 35386908)
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Kang, D.-H.1
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Mazzali, M.6
Truong, L.7
Harris, R.8
Johnson, R.J.9
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23
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Management of asymptomatic hyperuricemia in patients with chronic kidney disease by Japanese nephrologists: A questionnaire survey
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Nakaya I, Namikoshi T, Tsuruta Y, et al. Management of asymptomatic hyperuricemia in patients with chronic kidney disease by Japanese nephrologists: A questionnaire survey. Nephrology 2011; 16:518-521.
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Nephrology
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Nakaya, I.1
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24
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0018734213
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Hypertension, renal function and gout
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Uric acid in hypertension and renal disease: The chicken or the egg?
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Treatment with the xanthine oxidase inhibitor febuxostat lowers uric acid and alleviates systemic and glomerular hypertension in experimental hyperuricaemia
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DOI 10.1093/ndt/gfm783
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Sanchez-Lozada L, Tapia E, Soto V, et al. Treatment with the xanthine oxidase inhibitor febuxostat lowers uric acid and alleviates systemic and glomerular hypertension in experimental hyperuricemia. Nephrol Dial Transplant 2008; 4:1179-1185. (Pubitemid 351767502)
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Johnson, R.J.7
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27
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0020037872
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Allopurinol treatment and its effect on renal function in gout: A controlled study
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Gibson T, Rodgers V, Potter C, et al. Allopurinol treatment and its effect on renal function in gout: A controlled study. Ann Rheum Dis 1982; 41:59-65. (Pubitemid 12136653)
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28
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77955729725
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Effect of allopurinol in chronic kidney disease progression and cardiovascular risk
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Fifty-seven hyperuricemic patients with impaired renal function were treated with allopurinol over 2 years and compared with 56 matched controls. Renal function stabilized in the allopurinol group but declined in the controls
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Goicoechea M, de Vinuesa S, Verdalles V, et al. Effect of allopurinol in chronic kidney disease progression and cardiovascular risk. Clin J Am Soc Nephrol 2010; 5:1388-1393. Fifty-seven hyperuricemic patients with impaired renal function were treated with allopurinol over 2 years and compared with 56 matched controls. Renal function stabilized in the allopurinol group but declined in the controls.
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Febuxostat in the treatment of gout: 5-yr findings of the focus efficacy and safety study
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Schumacher H, Becker M, Lloyd E, et al. Febuxostat in the treatment of gout: 5-yr findings of the focus efficacy and safety study. Rheumatology (Oxford) 2009; 48:188-194.
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Renal function in gout: Long term treatment effects of febuxostat
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Whelton A, Macdonald P, Zhao L, et al. Renal function in gout: Long term treatment effects of febuxostat. J Clin Rheumatol 2011; 17:7-13.
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