Wilson disease: new insights into pathogenesis, diagnosis, and future therapy.


Wilson disease is caused by disease-specific mutations of the copper transporting ATPase, ATP7B. The diagnosis is established by clinical and biochemical means, though advances in molecular diagnostics will someday permit de novo diagnosis. The patient may present with hepatic, neurologic, or psychiatric symptoms, or a combination of these. Both… (More)



Citations per Year

Citation Velocity: 8

Averaging 8 citations per year over the last 3 years.

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