Article
Concordance rates of Wilson's disease phenotype among siblings.
Journal of inherited metabolic disease - 1 Jan 2014
Chabik Grzegorz, Litwin Tomasz, Członkowska Anna
Abstract excerpt
Wilson's disease (WD) is an autosomal recessive disorder characterized by the functional disruption of adenosine triphosphatase 7B (ATP7B), which results in positive copper balance. Although the primary manifestations of the disease are hepatic or neurological in scope, the factors that cause a very diverse picture of WD are not well researched. We compared the first clinical presentation, ages of onset and...
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