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Journal Abstract Search

202 related items for PubMed ID: 12480568

  • 21. Gilbert's syndrome--a legitimate genetic anomaly?
    Schmid R.
    N Engl J Med; 1995 Nov 02; 333(18):1217-8. PubMed ID: 7565981
    [No Abstract] [Full Text] [Related]

  • 22. Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias.
    Clarke DJ, Moghrabi N, Monaghan G, Cassidy A, Boxer M, Hume R, Burchell B.
    Clin Chim Acta; 1997 Oct 09; 266(1):63-74. PubMed ID: 9435989
    [Abstract] [Full Text] [Related]

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  • 24. Genetic factors in neonatal hyperbilirubinemia and kernicterus.
    Sarici SU, Saldir M.
    Turk J Pediatr; 2007 Oct 09; 49(3):245-9. PubMed ID: 17990575
    [Abstract] [Full Text] [Related]

  • 25. Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates.
    Udomuksorn W, Elliot DJ, Lewis BC, Mackenzie PI, Yoovathaworn K, Miners JO.
    Pharmacogenet Genomics; 2007 Dec 09; 17(12):1017-29. PubMed ID: 18004206
    [Abstract] [Full Text] [Related]

  • 26. Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome.
    Minucci A, Ruggiero A, Canu G, Maurizi P, De Bonis M, Concolino P, De Luca D, Capoluongo E.
    Pediatr Blood Cancer; 2015 Sep 09; 62(9):1680-1. PubMed ID: 25822733
    [No Abstract] [Full Text] [Related]

  • 27. [Relationship between bilirubin UDP-glucuronosyl transferase polymorphism and neonatal jaundice].
    Sha B.
    Zhongguo Dang Dai Er Ke Za Zhi; 2007 Oct 09; 9(5):510-3. PubMed ID: 17937877
    [No Abstract] [Full Text] [Related]

  • 28. Kernicterus in an adult who is heterozygous for Crigler-Najjar syndrome and homozygous for Gilbert-type genetic defect.
    Chalasani N, Chowdhury NR, Chowdhury JR, Boyer TD.
    Gastroenterology; 1997 Jun 09; 112(6):2099-103. PubMed ID: 9178703
    [Abstract] [Full Text] [Related]

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  • 30. Inherited disorders of bilirubin clearance.
    Memon N, Weinberger BI, Hegyi T, Aleksunes LM.
    Pediatr Res; 2016 Mar 09; 79(3):378-86. PubMed ID: 26595536
    [Abstract] [Full Text] [Related]

  • 31. Persistent jaundice in an infant with homozygous beta thalassemia due to co-inherited Crigler-Najjar syndrome.
    Aggarwal V, Seth A, Sharma S, Aneja S, Sammarco P, Fabiano C.
    Pediatr Blood Cancer; 2010 Apr 09; 54(4):627-8. PubMed ID: 19953640
    [Abstract] [Full Text] [Related]

  • 32. [Inherited disorders of bilirubin metabolism].
    Rossi F, Francese M, Iodice RM, Falcone E, Vetrella S, Punzo F, De Vita S, Perrotta S.
    Minerva Pediatr; 2005 Apr 09; 57(2):53-63. PubMed ID: 15985997
    [Abstract] [Full Text] [Related]

  • 33. Hereditary hyperbilirubinemias.
    Radlović N.
    Srp Arh Celok Lek; 2014 Apr 09; 142(3-4):257-60. PubMed ID: 24839786
    [Abstract] [Full Text] [Related]

  • 34. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome.
    Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP.
    N Engl J Med; 1995 Nov 02; 333(18):1171-5. PubMed ID: 7565971
    [Abstract] [Full Text] [Related]

  • 35. [Analysis of mutation site characteristics of Gilbert syndrome and Crigler--Najjar syndrome in relation to uridine diphosphate glucuronosyltransferase A1 gene].
    Liang C, Luo L, Bai J, Bai L, Bian DD, Ren Y, Liu S, Chen Y, Duan ZP, Zheng SJ.
    Zhonghua Gan Zang Bing Za Zhi; 2020 May 20; 28(5):428-433. PubMed ID: 32536060
    [Abstract] [Full Text] [Related]

  • 36. [A family study of the compound heterozygous mutation of the UGT1A1 gene causing Crigler-Najjar syndrome type II].
    Luo L, Yao XB, Zheng SJ, Yang WL.
    Zhonghua Gan Zang Bing Za Zhi; 2023 Feb 20; 31(2):168-173. PubMed ID: 37137832
    [Abstract] [Full Text] [Related]

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  • 38. A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDP-glucuronosyltransferase gene.
    Maruo Y, Wada S, Yamamoto K, Sato H, Yamano T, Shimada M.
    Eur J Pediatr; 1999 Jul 20; 158(7):547-9. PubMed ID: 10412811
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  • 40. A new frame-shifting mutation of UGT1A1 gene causes type I Crigler-Najjar syndrome.
    Wang J, Fang LJ, Li L, Wang JS, Chen C.
    Chin Med J (Engl); 2011 Dec 20; 124(23):4109-11. PubMed ID: 22340355
    [Abstract] [Full Text] [Related]

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