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

Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by alteration of the adenosine triphosphatase 7B gene. It is rare to diagnose WD below the age of three years. Molecular genetic testing is one of the most important diagnostic methods and may confirm the diagnosis in...

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Main Authors: Kim, Joo Whee, Kim, Jong Hyun, Seo, Jeong Kee, Ko, Jae Sung, Chang, Ju Young, Yang, Hye Ran, Kang, Kyung Hoon
פורמט: Artigo
שפה:Inglês
יצא לאור: Baishideng Publishing Group Co., Limited 2013
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3612577/
https://ncbi.nlm.nih.gov/pubmed/23556051
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4254/wjh.v5.i3.156
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