Article
Pearls & Oy-sters: Challenges and Controversies in Wilson Disease.
Neurology - 9 Aug 2022
Ruiz-Lopez Marta, Moreno Estébanez Ana, Tijero Beatriz, Fernandez Tamara, Rebollo-Perez Alba, Gabilondo Iñigo, Lopez-Osle Nuria, Ceberio-Hualde Leticia, Zarranz Juan Jose, Gomez-Esteban Juan Carlos
Abstract excerpt
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. With this series of cases, we aim to illustrate the main challenges that clinicians may encounter when dealing with...
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