Literature DB >> 12717088

Early occurrence of hypertransaminasemia in a 13-month-old child with Wilson disease.

Raffaele Iorio1, Mariangela D'Ambrosi, Giuseppina Mazzarella, Flavia Varrella, Raffaella Vecchione, Angela Vegnente.   

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Year:  2003        PMID： 12717088     DOI： 10.1097/00005176-200305000-00009

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


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  7 in total

Review 1.  Diagnosis of Wilson disease in young children: molecular genetic testing and a paradigm shift from the laboratory diagnosis.

Authors:  Jeong Kee Seo
Journal:  Pediatr Gastroenterol Hepatol Nutr       Date:  2012-12-31

Review 2.  Challenges in the diagnosis of Wilson disease.

Authors:  Aurélia Poujois; France Woimant
Journal:  Ann Transl Med       Date:  2019-04

3.  Genetically confirmed Wilson disease in a 9-month old boy with elevations of aminotransferases.

Authors:  Joo Whee Kim; Jong Hyun Kim; Jeong Kee Seo; Jae Sung Ko; Ju Young Chang; Hye Ran Yang; Kyung Hoon Kang
Journal:  World J Hepatol       Date:  2013-03-27

4.  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

5.  Prospective evaluation of the diagnostic accuracy of hepatic copper content, as determined using the entire core of a liver biopsy sample.

Authors:  Xu Yang; Xiao-peng Tang; Yong-hong Zhang; Kai-zhong Luo; Yong-fang Jiang; Hong-yu Luo; Jian-hua Lei; Wen-long Wang; Ming-ming Li; Han-chun Chen; Shi-lin Deng; Li-ying Lai; Jun Liang; Min Zhang; Yi Tian; Yun Xu
Journal:  Hepatology       Date:  2015-08-27       Impact factor: 17.425

6.  Handling variability and incompleteness of biological data by flexible nets: a case study for Wilson disease.

Authors:  Jorge Júlvez; Duygu Dikicioglu; Stephen G Oliver
Journal:  NPJ Syst Biol Appl       Date:  2018-01-11

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
  7 in total

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