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188 related items for PubMed ID: 14551354
21. 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]
22. Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria. Peretz H, Naamati MS, Levartovsky D, Lagziel A, Shani E, Horn I, Shalev H, Landau D. Mol Genet Metab; 2007 May 15; 91(1):23-9. PubMed ID: 17368066 [Abstract] [Full Text] [Related]
23. Deletion mutation in Drosophila ma-l homologous, putative molybdopterin cofactor sulfurase gene is associated with bovine xanthinuria type II. Watanabe T, Ihara N, Itoh T, Fujita T, Sugimoto Y. J Biol Chem; 2000 Jul 21; 275(29):21789-92. PubMed ID: 10801779 [Abstract] [Full Text] [Related]
24. Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II. Yamamoto T, Moriwaki Y, Takahashi S, Tsutsumi Z, Tuneyoshi K, Matsui K, Cheng J, Hada T. Metabolism; 2003 Nov 21; 52(11):1501-4. PubMed ID: 14624414 [Abstract] [Full Text] [Related]
25. Human xanthine dehydrogenase cDNA sequence and protein in an atypical case of type I xanthinuria in comparison with normal subjects. Yamamoto T, Moriwaki Y, Shibutani Y, Matsui K, Ueo T, Takahashi S, Tsutsumi Z, Hada T. Clin Chim Acta; 2001 Feb 21; 304(1-2):153-8. PubMed ID: 11165212 [Abstract] [Full Text] [Related]
26. [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 21; 141(8):571-4. PubMed ID: 27078247 [Abstract] [Full Text] [Related]
27. 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 Apr 21; 35(6):2412-21. PubMed ID: 25967871 [Abstract] [Full Text] [Related]
28. 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 21; 108(4):279-83. PubMed ID: 11379872 [Abstract] [Full Text] [Related]
29. [A case of Xanthinuria in a patient with marked hypouricemia]. Martella V, Sozzo E, Montagna E, Stefanizzi S, Cito A, Marinello E, Terzuoli L, Micheli V, Napoli M. G Ital Nefrol; 2011 Apr 21; 28(6):648-53. PubMed ID: 22167616 [Abstract] [Full Text] [Related]
30. Xanthine urolithiasis in a cat: a case report and evaluation of a candidate gene for xanthine dehydrogenase. Tsuchida S, Kagi A, Koyama H, Tagawa M. J Feline Med Surg; 2007 Dec 21; 9(6):503-8. PubMed ID: 17576085 [Abstract] [Full Text] [Related]
31. [Type 1 xanthinuria: Report on three cases]. Diss M, Ranchin B, Broly F, Pottier N, Cochat P. Arch Pediatr; 2015 Dec 21; 22(12):1288-91. PubMed ID: 26521682 [Abstract] [Full Text] [Related]
32. [Classical xanthinuria (type I and II)]. Ichida K, Hosoya T. Ryoikibetsu Shokogun Shirizu; 1998 Dec 21; (18 Pt 1):470-3. PubMed ID: 9590104 [No Abstract] [Full Text] [Related]
33. Modern diagnostic approach to hereditary xanthinuria. Mraz M, Hurba O, Bartl J, Dolezel Z, Marinaki A, Fairbanks L, Stiburkova B. Urolithiasis; 2015 Feb 21; 43(1):61-7. PubMed ID: 25370766 [Abstract] [Full Text] [Related]
34. [Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy]. Rebentisch G, Stolz S, Muche J. Aktuelle Urol; 2004 Jun 21; 35(3):215-21. PubMed ID: 15258855 [Abstract] [Full Text] [Related]
35. 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 21; 33(2):1009-1014. PubMed ID: 30758870 [Abstract] [Full Text] [Related]
36. [Unmeasurable uric acid in blood and urine; xanthine dehydrogenase deficiency (or hereditary xanthinuria)]. Mayaudon H, Bauduceau B, Dupuy O, Ceppa F, Roul G, Burnat P. Rev Med Interne; 1999 May 21; 20(5):445. PubMed ID: 10365419 [No Abstract] [Full Text] [Related]
37. [An aged case of hereditary xanthinuria with xanthine urinary calculi]. Kario K, Matsuo T, Nakao K. Nihon Ronen Igakkai Zasshi; 1991 Jan 21; 28(1):63-8. PubMed ID: 2046168 [Abstract] [Full Text] [Related]
38. [Hereditary xanthinuria and molybdenum cofactor deficiency]. Ichida K. Nihon Rinsho; 2003 Jan 21; 61 Suppl 1():377-82. PubMed ID: 12629751 [No Abstract] [Full Text] [Related]
39. Assignment of human xanthine dehydrogenase gene to chromosome 2p22. Xu P, Zhu XL, Huecksteadt TP, Brothman AR, Hoidal JR. Genomics; 1994 Sep 01; 23(1):289-91. PubMed ID: 7829092 [Abstract] [Full Text] [Related]
40. Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans. Ichida K, Amaya Y, Okamoto K, Nishino T. Int J Mol Sci; 2012 Nov 21; 13(11):15475-95. PubMed ID: 23203137 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]