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Journal Abstract Search

110 related items for PubMed ID: 27078247

  • 1. [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; 141(8):571-4. PubMed ID: 27078247
    [Abstract] [Full Text] [Related]

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

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

  • 4. Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria.
    Sakamoto N, Yamamoto T, Moriwaki Y, Teranishi T, Toyoda M, Onishi Y, Kuroda S, Sakaguchi K, Fujisawa T, Maeda M, Hada T.
    Hum Genet; 2001 Apr; 108(4):279-83. PubMed ID: 11379872
    [Abstract] [Full Text] [Related]

  • 5. 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; 33 Suppl 3():S21-4. PubMed ID: 20077140
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Xanthinuria type I: a rare cause of urolithiasis.
    Arikyants N, Sarkissian A, Hesse A, Eggermann T, Leumann E, Steinmann B.
    Pediatr Nephrol; 2007 Feb 24; 22(2):310-4. PubMed ID: 17115198
    [Abstract] [Full Text] [Related]

  • 8. 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 24; 18(11):2278-83. PubMed ID: 14551354
    [Abstract] [Full Text] [Related]

  • 9. 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 Nov 24; 61(9):1383-1386. PubMed ID: 35491177
    [Abstract] [Full Text] [Related]

  • 10. Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I.
    Stiburkova B, Krijt J, Vyletal P, Bartl J, Gerhatova E, Korinek M, Sebesta I.
    Clin Chim Acta; 2012 Jan 18; 413(1-2):93-9. PubMed ID: 21963464
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. [Hereditary xanthinuria, rare cause of hypo-uric acidemia. 2 cases].
    Mayaudon H, Burnat P, Eulry F, Payen C, Dupuy O, Ducorps M, Bauduceau B.
    Presse Med; 1998 Apr 11; 27(14):661-3. PubMed ID: 9767921
    [Abstract] [Full Text] [Related]

  • 13. 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 11; 57(6):2215-20. PubMed ID: 10844591
    [Abstract] [Full Text] [Related]

  • 14. 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 11; 79(1):78-80. PubMed ID: 23249873
    [Abstract] [Full Text] [Related]

  • 15. 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 Jan 11; 148(8):578-583. PubMed ID: 38527446
    [Abstract] [Full Text] [Related]

  • 16. [Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy].
    Rebentisch G, Stolz S, Muche J.
    Aktuelle Urol; 2004 Jun 11; 35(3):215-21. PubMed ID: 15258855
    [Abstract] [Full Text] [Related]

  • 17. Using Next-Generation Sequencing to Identify a Mutation in Human MCSU that is Responsible for Type II Xanthinuria.
    Zhou Y, Zhang X, Ding R, Li Z, Hong Q, Wang Y, Zheng W, Geng X, Fan M, Cai G, Chen X, Wu D.
    Cell Physiol Biochem; 2015 Jun 11; 35(6):2412-21. PubMed ID: 25967871
    [Abstract] [Full Text] [Related]

  • 18. Two siblings with classical xanthinuria type 1: significance of allopurinol loading test.
    Ichida K, Yoshida M, Sakuma R, Hosoya T.
    Intern Med; 1998 Jan 11; 37(1):77-82. PubMed ID: 9510406
    [Abstract] [Full Text] [Related]

  • 19. [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 11; 29(170):111-4. PubMed ID: 20842824
    [Abstract] [Full Text] [Related]

  • 20. Hereditary xanthinuria: report of two cases.
    Chu TS.
    J Formos Med Assoc; 1993 May 11; 92(5):478-81. PubMed ID: 8104605
    [Abstract] [Full Text] [Related]

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