241 related articles for article (PubMed ID: 23774950)
1. Concordance rates of Wilson's disease phenotype among siblings.
Chabik G; Litwin T; Członkowska A
J Inherit Metab Dis; 2014 Jan; 37(1):131-5. PubMed ID: 23774950
[TBL] [Abstract][Full Text] [Related]
2. p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.
Gromadzka G; Schmidt HH; Genschel J; Bochow B; Rodo M; Tarnacka B; Litwin T; Chabik G; Członkowska A
Mov Disord; 2006 Feb; 21(2):245-8. PubMed ID: 16211609
[TBL] [Abstract][Full Text] [Related]
3. Wilson's disease in two consecutive generations: the detection of three mutated alleles in the ATP7B gene in two Sardinian families.
Loudianos G; Zappu A; Lepori MB; Incollu S; Dessì V; Mameli E; Garrucciu G; De Virgiliis S; Cao A
Dig Liver Dis; 2013 Apr; 45(4):342-5. PubMed ID: 23219664
[TBL] [Abstract][Full Text] [Related]
4. ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients.
Santhosh S; Shaji RV; Eapen CE; Jayanthi V; Malathi S; Chandy M; Stanley M; Selvi S; Kurian G; Chandy GM
Indian J Gastroenterol; 2006; 25(6):277-82. PubMed ID: 17264425
[TBL] [Abstract][Full Text] [Related]
5. 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; 56(1):115-20. PubMed ID: 16709660
[TBL] [Abstract][Full Text] [Related]
6. Phenotype-genotype correlations in patients with Wilson's disease.
Ferenci P
Ann N Y Acad Sci; 2014 May; 1315():1-5. PubMed ID: 24517292
[TBL] [Abstract][Full Text] [Related]
7. Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.
Gromadzka G; Schmidt HH; Genschel J; Bochow B; Rodo M; Tarnacka B; Litwin T; Chabik G; Członkowska A
Clin Genet; 2005 Dec; 68(6):524-32. PubMed ID: 16283883
[TBL] [Abstract][Full Text] [Related]
8. High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease.
Kucinskas L; Jeroch J; Vitkauskiene A; Sakalauskas R; Petrenkiene V; Kucinskas V; Naginiene R; Schmidt H; Kupcinskas L
World J Gastroenterol; 2008 Oct; 14(38):5876-9. PubMed ID: 18855987
[TBL] [Abstract][Full Text] [Related]
9. Late onset fulminant Wilson's disease: a case report and review of the literature.
Weitzman E; Pappo O; Weiss P; Frydman M; Haviv-Yadid Y; Ben Ari Z
World J Gastroenterol; 2014 Dec; 20(46):17656-60. PubMed ID: 25516681
[TBL] [Abstract][Full Text] [Related]
10. The His1069Gln mutation in the ATP7B gene in Romanian patients with Wilson's disease referred to a tertiary gastroenterology center.
Iacob R; Iacob S; Nastase A; Vagu C; Ene AM; Constantinescu A; Anghel D; Banica C; Paslaru L; Coriu D; Dima S; Gheorghe C; Ionica E; Gheorghe L
J Gastrointestin Liver Dis; 2012 Jun; 21(2):181-5. PubMed ID: 22720308
[TBL] [Abstract][Full Text] [Related]
11. Late-onset Wilson's disease.
Ferenci P; Członkowska A; Merle U; Ferenc S; Gromadzka G; Yurdaydin C; Vogel W; Bruha R; Schmidt HT; Stremmel W
Gastroenterology; 2007 Apr; 132(4):1294-8. PubMed ID: 17433323
[TBL] [Abstract][Full Text] [Related]
12. [Genotype and phenotype correlation in Chinese patients with Wilson's Disease].
Liu XQ; Zhang YF; Liu TT; Gu XF; Hsiao KJ; Bao KR; Yu LH
Zhonghua Er Ke Za Zhi; 2003 Jan; 41(1):35-8. PubMed ID: 14761325
[TBL] [Abstract][Full Text] [Related]
13. Genotype phenotype correlation in Wilson's disease within families--a report on four south Indian families.
Santhosh S; Shaji RV; Eapen CE; Jayanthi V; Malathi S; Finny P; Thomas N; Chandy M; Kurian G; Chandy GM
World J Gastroenterol; 2008 Aug; 14(29):4672-6. PubMed ID: 18698682
[TBL] [Abstract][Full Text] [Related]
14. Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
Lee BH; Kim JH; Lee SY; Jin HY; Kim KJ; Lee JJ; Park JY; Kim GH; Choi JH; Kim KM; Yoo HW
Liver Int; 2011 Jul; 31(6):831-9. PubMed ID: 21645214
[TBL] [Abstract][Full Text] [Related]
15. Copper metabolism after living donor liver transplantation for hepatic failure of Wilson's disease from a gene mutated donor.
Kobayashi S; Ochiai T; Hori S; Suzuki T; Shimizu T; Gunji Y; Shimada H; Yamamoto S; Ogawa A; Kohno Y; Sunaga M; Shimazu M; Tanaka K
Hepatogastroenterology; 2001; 48(41):1259-61. PubMed ID: 11677941
[TBL] [Abstract][Full Text] [Related]
16. Diagnosis of Wilson's disease: a comprehensive review.
Mak CM; Lam CW
Crit Rev Clin Lab Sci; 2008; 45(3):263-90. PubMed ID: 18568852
[TBL] [Abstract][Full Text] [Related]
17. Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China.
Liu Y; Zhou H; Guo H; Bai Y
Arch Med Res; 2015 Feb; 46(2):164-9. PubMed ID: 25704634
[TBL] [Abstract][Full Text] [Related]
18. Value of molecular analysis of Wilson's disease in the absence of tissue copper deposits: a novel ATP7B mutation in an adult patient.
Kok KF; Hoevenaars B; Waanders E; Drenth JP
Neth J Med; 2008 Sep; 66(8):348-50. PubMed ID: 18809983
[TBL] [Abstract][Full Text] [Related]
19. Wilson's Disease.
Ferenci P
Clin Gastroenterol Hepatol; 2005 Aug; 3(8):726-33. PubMed ID: 16233999
[TBL] [Abstract][Full Text] [Related]
20. [The onset of psychiatric disorders and Wilson's disease].
Benhamla T; Tirouche YD; Abaoub-Germain A; Theodore F
Encephale; 2007 Dec; 33(6):924-32. PubMed ID: 18789784
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
