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Article

Familial screening of children with Wilson disease: Necessity of screening in previous generation and screening methods.

Medicine - 1 Jul 2018

Li Huamei, Liu Lifang, Li Yun, He Shendi, Liu Yujie, Li Jinhong, Tao Ran, Li Wei, Shang Shiqiang

Abstract excerpt

Wilson disease (WD) is an autosomal recessive genetic disorder associated with copper metabolism. Early diagnosis and therapy can result in good prognosis of WD. Thus, it is highly recommended to perform familial screening. In this study, we aimed to investigate the range of familial screening of children with WD and determine the appropriate screening methods.We enrolled 20 children with WD and 50 family members...

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Identifiers

PMID: 29979436
DOI: 10.1097/MD.0000000000011405
PMCID: PMC6076046

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