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. Copyright © 2006 Elsevier Inc. All rights reserved.
Direct diagnosis of Wilson disease by molecular genetics
Maggiore, Giuseppe
2006
Abstract
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. Copyright © 2006 Elsevier Inc. All rights reserved.File in questo prodotto:
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