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Journal Abstract Search


124 related items for PubMed ID: 38527446

  • 1. Kidney Failure Secondary to Hereditary Xanthinuria due to a Homozygous Deletion of the XDH Gene in the Absence of Overt Kidney Stone Disease.
    Gonçalves PL, Diniz H, Tavares I, Dória S, Dong J, Kyriss M, Fairbanks L, Oliveira JP.
    Nephron; 2024; 148(8):578-583. PubMed ID: 38527446
    [Abstract] [Full Text] [Related]

  • 2. Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria.
    Gok F, Ichida K, Topaloglu R.
    Nephrol Dial Transplant; 2003 Nov; 18(11):2278-83. PubMed ID: 14551354
    [Abstract] [Full Text] [Related]

  • 3. Hereditary xanthinuria is not so rare disorder of purine metabolism.
    Sebesta I, Stiburkova B, Krijt J.
    Nucleosides Nucleotides Nucleic Acids; 2018 Nov; 37(6):324-328. PubMed ID: 29723117
    [Abstract] [Full Text] [Related]

  • 4. Hereditary xanthinuria in a goat.
    Vail KJ, Tate NM, Likavec T, Minor KM, Gibbons PM, Rech RR, Furrow E.
    J Vet Intern Med; 2019 Mar; 33(2):1009-1014. PubMed ID: 30758870
    [Abstract] [Full Text] [Related]

  • 5. Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child.
    Nakamura M, Yuichiro Y, Sass JO, Tomohiro M, Schwab KO, Takeshi N, Tatsuo H, Ichida K.
    Clin Chim Acta; 2012 Dec 24; 414():158-60. PubMed ID: 22981351
    [Abstract] [Full Text] [Related]

  • 6. A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi.
    Fujiwara Y, Kawakami Y, Shinohara Y, Ichida K.
    Intern Med; 2012 Dec 24; 51(14):1879-84. PubMed ID: 22821105
    [Abstract] [Full Text] [Related]

  • 7. Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II).
    Stiburkova B, Pavelcova K, Petru L, Krijt J.
    Toxicol Appl Pharmacol; 2018 Aug 15; 353():102-108. PubMed ID: 29935280
    [Abstract] [Full Text] [Related]

  • 8. Candidate causative variant for xanthinuria in a Domestic Shorthair cat.
    Pritchard E, Samaha G, Mizzi K, Boland L, 99Lives Consortium, Haase B.
    Anim Genet; 2023 Aug 15; 54(4):576-580. PubMed ID: 36970934
    [Abstract] [Full Text] [Related]

  • 9. A novel mutation in xanthine dehydrogenase in a case with xanthinuria in Hunan province of China.
    Xu T, Xie X, Zhang Z, Zhao N, Deng Y, Li P.
    Clin Chim Acta; 2020 May 15; 504():168-171. PubMed ID: 32067994
    [Abstract] [Full Text] [Related]

  • 10. Multi-exon deletion in the XDH gene as a cause of classical xanthinuria.
    Eggermann T, Spengler S, Denecke B, Zerres K, Mache CJ.
    Clin Nephrol; 2013 Jan 15; 79(1):78-80. PubMed ID: 23249873
    [Abstract] [Full Text] [Related]

  • 11. XDH gene mutation is the underlying cause of classical xanthinuria: a second report.
    Levartovsky D, Lagziel A, Sperling O, Liberman U, Yaron M, Hosoya T, Ichida K, Peretz H.
    Kidney Int; 2000 Jun 15; 57(6):2215-20. PubMed ID: 10844591
    [Abstract] [Full Text] [Related]

  • 12. Multiple variants in XDH and MOCOS underlie xanthine urolithiasis in dogs.
    Tate NM, Minor KM, Lulich JP, Mickelson JR, Berent A, Foster JD, Petersen KH, Furrow E.
    Mol Genet Metab Rep; 2021 Dec 15; 29():100792. PubMed ID: 34584846
    [Abstract] [Full Text] [Related]

  • 13. Xanthinuria Type 1 with a Novel Mutation in Xanthine Dehydrogenase and a Normal Endothelial Function.
    Miyazaki S, Hamada T, Sugihara S, Mizuta E, Endo Y, Ohtahara A, Komatsu K, Kuwabara M, Fukuuchi T, Kaneko K, Ichida K, Ogino K, Ninomiya H, Yamamoto K, Nakamura T, Hisatome I.
    Intern Med; 2022 Dec 15; 61(9):1383-1386. PubMed ID: 35491177
    [Abstract] [Full Text] [Related]

  • 14. [Xanthinuria type 1 in a woman with arthralgias: a combined clinical and molecular genetic investigation].
    Därr RW, Lenzner S, Eggermann T, Därr WH.
    Dtsch Med Wochenschr; 2016 Apr 15; 141(8):571-4. PubMed ID: 27078247
    [Abstract] [Full Text] [Related]

  • 15. [Xanthinuria type I as the cause of nephrolithiasis in 17-years old girl].
    Borucka B, Runowski D, Safranow K, Olszewska M, Jakubowska K, Chlubek D.
    Pol Merkur Lekarski; 2010 Aug 15; 29(170):111-4. PubMed ID: 20842824
    [Abstract] [Full Text] [Related]

  • 16. Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient.
    Jurecka A, Stiburkova B, Krijt J, Gradowska W, Tylki-Szymanska A.
    J Inherit Metab Dis; 2010 Dec 15; 33 Suppl 3():S21-4. PubMed ID: 20077140
    [Abstract] [Full Text] [Related]

  • 17. A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation.
    Piret SE, Esapa CT, Gorvin CM, Head R, Loh NY, Devuyst O, Thomas G, Brown SD, Brown M, Croucher P, Cox R, Thakker RV.
    PLoS One; 2012 Dec 15; 7(9):e45217. PubMed ID: 23024809
    [Abstract] [Full Text] [Related]

  • 18. A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase.
    Iguchi A, Sato T, Yamazaki M, Tasaki K, Suzuki Y, Iino N, Hasegawa H, Ichida K, Narita I.
    CEN Case Rep; 2016 Nov 15; 5(2):158-162. PubMed ID: 28508967
    [Abstract] [Full Text] [Related]

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