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SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.
Vitart V, Rudan I, Hayward C, Gray NK, Floyd J, Palmer CN, Knott SA, Kolcic I, Polasek O, Graessler J, Wilson JF, Marinaki A, Riches PL, Shu X, Janicijevic B, Smolej-Narancic N, Gorgoni B, Morgan J, Campbell S, Biloglav Z, Barac-Lauc L, Pericic M, Klaric IM, Zgaga L, Skaric-Juric T, Wild SH, Richardson WA, Hohenstein P, Kimber CH, Tenesa A, Donnelly LA, Fairbanks LD, Aringer M, McKeigue PM, Ralston SH, Morris AD, Rudan P, Hastie ND, Campbell H, Wright AF. Vitart V, et al. Among authors: fairbanks ld. Nat Genet. 2008 Apr;40(4):437-42. doi: 10.1038/ng.106. Epub 2008 Mar 9. Nat Genet. 2008. PMID: 18327257
Purine nucleoside phosphorylase deficiency: a mutation update.
Walker PL, Corrigan A, Arenas M, Escuredo E, Fairbanks L, Marinaki A. Walker PL, et al. Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1243-7. doi: 10.1080/15257770.2011.630852. Nucleosides Nucleotides Nucleic Acids. 2011. PMID: 22132981
Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency.
Sumi S, Marinaki AM, Arenas M, Fairbanks L, Shobowale-Bakre M, Rees DC, Thein SL, Ansari A, Sanderson J, De Abreu RA, Simmonds HA, Duley JA. Sumi S, et al. Hum Genet. 2002 Oct;111(4-5):360-7. doi: 10.1007/s00439-002-0798-z. Epub 2002 Aug 15. Hum Genet. 2002. PMID: 12384777
Modern diagnostic approach to hereditary xanthinuria.
Mraz M, Hurba O, Bartl J, Dolezel Z, Marinaki A, Fairbanks L, Stiburkova B. Mraz M, et al. Urolithiasis. 2015 Feb;43(1):61-7. doi: 10.1007/s00240-014-0734-4. Epub 2014 Nov 6. Urolithiasis. 2015. PMID: 25370766
Familial juvenile hyperuricaemic nephropathy.
Fairbanks LD, Marinaki AM, Simmonds HA, Cameron JS. Fairbanks LD, et al. QJM. 2004 Feb;97(2):106-7. doi: 10.1093/qjmed/hch021. QJM. 2004. PMID: 14747627 No abstract available.
145 results