Literature DB >> 19118916

Role of genotyping in Wilson's disease.

Hartmut H-J Schmidt.   

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Year:  2008        PMID： 19118916     DOI： 10.1016/j.jhep.2008.11.008

Source DB:  PubMed          Journal:  J Hepatol        ISSN： 0168-8278            Impact factor:   25.083


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  8 in total

1.  Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam.

Authors:  Nguyen Thi Mai Huong; Nguyen Pham Anh Hoa; Ngo Diem Ngoc; Nguyen Thi Phuong Mai; Pham Hai Yen; Hoàng Thị Vân Anh; Giang Hoa; Tran Minh Dien
Journal:  Mol Genet Metab Rep       Date:  2022-03-15

2.  Dietary copper triggers onset of fulminant hepatitis in the Long-Evans cinnamon rat model.

Authors:  Ramsi Siaj; Vanessa Sauer; Sandra Stöppeler; Hans-Ullrich Spiegel; Gabriele Köhler; Andree Zibert; Hartmut H J Schmidt
Journal:  World J Gastroenterol       Date:  2012-10-21       Impact factor: 5.742

3.  A genetic study of Wilson's disease in the United Kingdom.

Authors:  Alison J Coffey; Miranda Durkie; Stephen Hague; Kirsten McLay; Jennifer Emmerson; Christine Lo; Stefanie Klaffke; Christopher J Joyce; Anil Dhawan; Nedim Hadzic; Giorgina Mieli-Vergani; Richard Kirk; K Elizabeth Allen; David Nicholl; Siew Wong; William Griffiths; Sarah Smithson; Nicola Giffin; Ali Taha; Sally Connolly; Godfrey T Gillett; Stuart Tanner; Jim Bonham; Basil Sharrack; Aarno Palotie; Magnus Rattray; Ann Dalton; Oliver Bandmann
Journal:  Brain       Date:  2013-03-21       Impact factor: 13.501

Review 4.  The Pragmatic Treatment of Wilson's Disease.

Authors:  Annu Aggarwal; Mohit Bhatt
Journal:  Mov Disord Clin Pract       Date:  2014-04-10

5.  Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.

Authors:  Xin-Hua Li; Yi Lu; Yun Ling; Qing-Chun Fu; Jie Xu; Guo-Qing Zang; Feng Zhou; Yu De-Min; Yue Han; Dong-Hua Zhang; Qi-Ming Gong; Zhi-Meng Lu; Xiao-Fei Kong; Jian-She Wang; Xin-Xin Zhang
Journal:  BMC Med Genet       Date:  2011-01-11       Impact factor: 2.103

6.  1H NMR-based metabolomics investigation of copper-laden rat: a model of Wilson's disease.

Authors:  Jingjing Xu; Huaizhou Jiang; Jinquan Li; Kian-Kai Cheng; Jiyang Dong; Zhong Chen
Journal:  PLoS One       Date:  2015-04-07       Impact factor: 3.240

7.  Functional Characterization of Novel ATP7B Variants for Diagnosis of Wilson Disease.

Authors:  Sarah Guttmann; Friedrich Bernick; Magdalena Naorniakowska; Ulf Michgehl; Sara Reinartz Groba; Piotr Socha; Andree Zibert; Hartmut H Schmidt
Journal:  Front Pediatr       Date:  2018-04-30       Impact factor: 3.418

8.  Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.

Authors:  Zhongyan Xiao; Yuan Yang; Hui Huang; Haiyan Tang; Liqun Liu; Jianguang Tang; Xiaoliu Shi
Journal:  Mol Genet Genomic Med       Date:  2021-07-29       Impact factor: 2.183
  8 in total

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