Article
Direct diagnosis of Wilson disease by molecular genetics.
The Journal of pediatrics - 1 Jan 2006
Caprai Silvia, Loudianos Georgios, Massei Francesco, Gori Laura, Lovicu Mario, Maggiore Giuseppe
Abstract excerpt
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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