Journal
JOURNAL OF PEDIATRICS
Volume 148, Issue 1, Pages 138-140Publisher
MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2005.07.036
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In 3 children with chronic liver disease, although multiple studies of copper metabolism were normal, which made the diagnosis of Wilson disease unlikely, analysis of ATP7B gene showed disease causing mutations in all. Molecular diagnosis should be considered in children with enigmatic liver disease, especially those with features of nonalcoholic fatty liver disease.
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