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Ana Moreno Estébanez on Muck Rack

Ana Moreno Estébanez

As seen in: Neurology
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Articles

Pearls & Oy-sters: Challenges and Controversies in Wilson Disease

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By Marta Ruiz-Lopez, Ana Moreno Estébanez, Beatriz Tijero, Tamara Fernández
| Neurology Verified
Abstract Wilson disease (WD) is a genetic disorder of copper metabolism caused by variants in the ATP7B gene, which are inherited in an autosomal recessive pattern. Despite all the advances made on pathogenesis, cellular biology, and genetics, to date, WD remains a diagnostic and therapeutic challenge.
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