Article
Diagnosis of Wilson's disease: a comprehensive review.
Critical reviews in clinical laboratory sciences - 1 Jan 2008
Mak Chloe M, Lam Ching-Wan
Abstract excerpt
Wilson's disease is an autosomal recessive disorder of copper metabolism. The culprit gene is ATP7B. The worldwide prevalence is about 1 in 30,000, which may vary by population. Higher prevalence rates were reported using more sensitive screening techniques and pilot population screening. Typical presentations include neuropsychiatric and hepatic dysfunction, whereas atypical presentations are protean. Diagnosis...
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