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Journal Abstract Search

965 related items for PubMed ID: 16998287

  • 1. [Wilson disease: an update].
    Seo JK.
    Korean J Hepatol; 2006 Sep; 12(3):333-63. PubMed ID: 16998287
    [Abstract] [Full Text] [Related]

  • 2. Wilson's Disease.
    Ferenci P.
    Clin Gastroenterol Hepatol; 2005 Aug; 3(8):726-33. PubMed ID: 16233999
    [Abstract] [Full Text] [Related]

  • 3. Disturbed copper transport in humans. Part 2: mutations of the ATP7B gene lead to Wilson disease (WD).
    Seidel J, Caca K, Schwab SG, Berr F, Wildenauer DB, Mentzel HJ, Horn N, Kauf E.
    Cell Mol Biol (Noisy-le-grand); 2001 Aug; 47 Online Pub():OL149-57. PubMed ID: 11936861
    [Abstract] [Full Text] [Related]

  • 4. [A primer on Wilson disease for the general practitioner].
    Hiroz P, Antonino A, Doerig C, Pache I, Moradpour D.
    Rev Med Suisse; 2011 Sep 07; 7(307):1690-2, 1694-5. PubMed ID: 21987877
    [Abstract] [Full Text] [Related]

  • 5. [Wilsons disease].
    Mareček Z, Brůha R.
    Vnitr Lek; 2013 Jul 07; 59(7):578-83. PubMed ID: 23909262
    [Abstract] [Full Text] [Related]

  • 6. Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.
    Yoo HW.
    Genet Med; 2002 Jul 07; 4(6 Suppl):43S-48S. PubMed ID: 12544487
    [Abstract] [Full Text] [Related]

  • 7. Pathophysiology and clinical features of Wilson disease.
    Ferenci P.
    Metab Brain Dis; 2004 Dec 07; 19(3-4):229-39. PubMed ID: 15554419
    [Abstract] [Full Text] [Related]

  • 8. Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study.
    Merle U, Schaefer M, Ferenci P, Stremmel W.
    Gut; 2007 Jan 07; 56(1):115-20. PubMed ID: 16709660
    [Abstract] [Full Text] [Related]

  • 9. Wilson's disease: an update.
    Das SK, Ray K.
    Nat Clin Pract Neurol; 2006 Sep 07; 2(9):482-93. PubMed ID: 16932613
    [Abstract] [Full Text] [Related]

  • 10. Wilson disease: the diagnostic challenge and treatment outcomes in a series of 262 cases.
    Deguti MM, Araujo FC, Terrabuio DRB, Araujo TF, Barbosa ER, Porta G, Cançado ELR.
    Arq Neuropsiquiatr; 2024 May 07; 82(5):1-9. PubMed ID: 38811021
    [Abstract] [Full Text] [Related]

  • 11. [Wilson's disease in paediatric age: diagnosis and treatment. Recent advances].
    Palumbo E.
    Recenti Prog Med; 2008 Nov 07; 99(11):561-4. PubMed ID: 19209540
    [Abstract] [Full Text] [Related]

  • 12. [Diagnosis and treatment of Wilson disease in Japan].
    Shimizu N.
    Rinsho Shinkeigaku; 2019 Sep 25; 59(9):565-569. PubMed ID: 31474637
    [Abstract] [Full Text] [Related]

  • 13. Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation.
    Bruha R, Marecek Z, Pospisilova L, Nevsimalova S, Vitek L, Martasek P, Nevoral J, Petrtyl J, Urbanek P, Jiraskova A, Ferenci P.
    Liver Int; 2011 Jan 25; 31(1):83-91. PubMed ID: 20958917
    [Abstract] [Full Text] [Related]

  • 14. Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.
    van den Berghe PV, Stapelbroek JM, Krieger E, de Bie P, van de Graaf SF, de Groot RE, van Beurden E, Spijker E, Houwen RH, Berger R, Klomp LW.
    Hepatology; 2009 Dec 25; 50(6):1783-95. PubMed ID: 19937698
    [Abstract] [Full Text] [Related]

  • 15. Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines.
    Chandhok G, Horvath J, Aggarwal A, Bhatt M, Zibert A, Schmidt HH.
    World J Gastroenterol; 2016 Apr 28; 22(16):4109-19. PubMed ID: 27122662
    [Abstract] [Full Text] [Related]

  • 16. Wilson disease in children: analysis of 57 cases.
    Manolaki N, Nikolopoulou G, Daikos GL, Panagiotakaki E, Tzetis M, Roma E, Kanavakis E, Syriopoulou VP.
    J Pediatr Gastroenterol Nutr; 2009 Jan 28; 48(1):72-7. PubMed ID: 19172127
    [Abstract] [Full Text] [Related]

  • 17. Manifestations and evolution of Wilson disease in pediatric patients carrying ATP7B mutation L708P.
    Peña-Quintana L, García-Luzardo MR, García-Villarreal L, Arias-Santos MD, Garay-Sánchez P, Santana A, González-Santana D, Ramos-Varela JC, Rial-González R, Tugores A.
    J Pediatr Gastroenterol Nutr; 2012 Jan 28; 54(1):48-54. PubMed ID: 21832955
    [Abstract] [Full Text] [Related]

  • 18. [Haplotype analysis and possible founder effect at the R778L mutation of the ATP7B gene in Korean patients with Wilson's disease].
    Bae SH, Kim JW, Seo JK.
    Korean J Hepatol; 2009 Sep 28; 15(3):309-19. PubMed ID: 19783880
    [Abstract] [Full Text] [Related]

  • 19. New novel mutation of the ATP7B gene in a family with Wilson disease.
    Lee JY, Kim YH, Kim TW, Oh SY, Kim DS, Shin BS.
    J Neurol Sci; 2012 Feb 15; 313(1-2):129-31. PubMed ID: 22075048
    [Abstract] [Full Text] [Related]

  • 20. Association of ATP7B mutation detection rate with biochemical characteristics in Korean patients with Wilson disease.
    Park HD, Park HK, Chung HS, Lee SY, Kim JW, Ki CS.
    Ann Clin Lab Sci; 2010 Feb 15; 40(1):15-9. PubMed ID: 20124325
    [Abstract] [Full Text] [Related]

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