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Items: 1 to 20 of 97

1.

Wilson's disease: A new perspective review on its genetics, diagnosis and treatment.

Saba L, Tiwari A, Biswas M, Gupta SK, Godia-Cuadrado E, Chaturvedi A, Turk M, Suri HS, Orru S, Sanches JM, Carcassi C, Marinho RT, Asare CK, Khanna NN, B K M, Suri JS.

Front Biosci (Elite Ed). 2019 Jun 1;11:166-185.

PMID:
31136971
2.

Currently Clinical Views on Genetics of Wilson's Disease.

Chen C, Shen B, Xiao JJ, Wu R, Duff Canning SJ, Wang XP.

Chin Med J (Engl). 2015 Jul 5;128(13):1826-30. doi: 10.4103/0366-6999.159361. Review.

3.

Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions.

Chen YC, Yu H, Wang RM, Xie JJ, Ni W, Zhang Y, Dong Y, Wu ZY.

Parkinsonism Relat Disord. 2019 May;62:128-133. doi: 10.1016/j.parkreldis.2019.01.001. Epub 2019 Jan 2.

PMID:
30655162
4.

Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.

Dong Y, Ni W, Chen WJ, Wan B, Zhao GX, Shi ZQ, Zhang Y, Wang N, Yu L, Xu JF, Wu ZY.

Theranostics. 2016 Mar 3;6(5):638-49. doi: 10.7150/thno.14596. eCollection 2016.

5.

Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson's Disease Pathogenesis.

Todorov T, Balakrishnan P, Savov A, Socha P, Schmidt HH.

PLoS One. 2016 Dec 19;11(12):e0168372. doi: 10.1371/journal.pone.0168372. eCollection 2016.

6.

High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.

Collet C, Laplanche JL, Page J, Morel H, Woimant F, Poujois A.

BMC Med Genet. 2018 Aug 10;19(1):143. doi: 10.1186/s12881-018-0660-3.

7.

Mutation Analysis of the ATP7B Gene in Seven Chinese Families with Wilson's Disease.

Xiao H, Deng S, Deng X, Gu S, Yang Z, Yin H, Deng H.

Digestion. 2019;99(4):319-326. doi: 10.1159/000493314. Epub 2018 Nov 1.

PMID:
30384382
8.

Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia.

Tomić A, Dobricić V, Novaković I, Svetel M, Pekmezović T, Kresojević N, Potrebić A, Kostić VS.

Vojnosanit Pregl. 2013 May;70(5):457-62.

PMID:
23789284
9.

Screening of Wilson's disease in a psychiatric population: difficulties and pitfalls. A preliminary study.

Demily C, Parant F, Cheillan D, Broussolle E, Pavec A, Guillaud O, Restier L; MOPSY Consortium, Lachaux A, Bost M.

Ann Gen Psychiatry. 2017 Apr 4;16:19. doi: 10.1186/s12991-017-0142-6. eCollection 2017.

10.

Epidemiology, diagnosis, and treatment of Wilson's disease.

Liu J, Luan J, Zhou X, Cui Y, Han J.

Intractable Rare Dis Res. 2017 Nov;6(4):249-255. doi: 10.5582/irdr.2017.01057. Review.

11.

[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. doi: 10.1016/j.encep.2006.08.009. Epub 2007 Sep 5. French.

PMID:
18789784
12.

Wilson's Disease.

Ferenci P.

Clin Gastroenterol Hepatol. 2005 Aug;3(8):726-33. Review.

PMID:
16233999
13.

Chinese Herbal Medicine for Wilson's Disease: A Systematic Review and Meta-Analysis.

Xu MB, Rong PQ, Jin TY, Zhang PP, Liang HY, Zheng GQ.

Front Pharmacol. 2019 Mar 29;10:277. doi: 10.3389/fphar.2019.00277. eCollection 2019.

14.

Wilson's disease: A 2017 update.

Poujois A, Woimant F.

Clin Res Hepatol Gastroenterol. 2018 Dec;42(6):512-520. doi: 10.1016/j.clinre.2018.03.007. Epub 2018 Apr 4.

PMID:
29625923
15.

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.

PMID:
16211609
16.

Wilson's Disease in China.

Xie JJ, Wu ZY.

Neurosci Bull. 2017 Jun;33(3):323-330. doi: 10.1007/s12264-017-0107-4. Epub 2017 Mar 6. Review.

17.

Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations.

Wei Z, Huang Y, Liu A, Diao S, Yu Q, Peng Z, Hong M.

Neuroreport. 2014 Oct 1;25(14):1075-80. doi: 10.1097/WNR.0000000000000216.

PMID:
25089800
18.

Wilson's Disease with Neurological Presentation, without Hepatic Involvement in Two Siblings.

Kumar MK, Kumar V, Singh PK.

J Clin Diagn Res. 2013 Jul;7(7):1476-8. doi: 10.7860/JCDR/2013/5974.3188. Epub 2013 Jun 26.

19.

Hemolytic anemia as first presentation of Wilson's disease with uncommon ATP7B mutation.

Ye XN, Mao LP, Lou YJ, Tong HY.

Int J Clin Exp Med. 2015 Mar 15;8(3):4708-11. eCollection 2015.

20.

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