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- W3024445341 abstract "Wilson disease (WD) is a monogenic, autosomal recessively inherited copper storage disorder due to biallelic mutations in the copper-transporting protein ATP7B. The 2 most common presentations are the hepatic presentation (typically in childhood) and the neurologic presentation (typically in early adulthood).1 However, later onset, especially for patients with the neurologic presentation, is well recognized, with some patients presenting in their 70s.2 Recent genetic studies suggest that the previously accepted and widely published prevalence figure of 1:30,000 may be an underestimate, but this is still a matter of debate.3,4 The observation of Kayser-Fleischer (KFR) rings can quickly establish the clinical diagnosis in patients with the neurology textbook presentation of wing-beating tremor combined with dysarthria. However, many other patients will present with a more complex movement disorder.5" @default.
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- W3024445341 date "2020-05-12" @default.
- W3024445341 modified "2023-09-26" @default.
- W3024445341 title "Liver transplant for neurologic Wilson disease" @default.
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- W3024445341 doi "https://doi.org/10.1212/wnl.0000000000009476" @default.
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