Wilson Disease: Update on Pathophysiology and Treatment

Wilson disease (WD) is a potentially fatal genetic disorder with a broad spectrum of phenotypic presentations. Inactivation of the copper (Cu) transporter ATP7B and Cu overload in tissues, especially in the liver, are established causes of WD. However, neither specific ATP7B mutations nor hepatic Cu...

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Bibliographic Details
Main Authors: Som Dev, Robert L. Kruse, James P. Hamilton, Svetlana Lutsenko
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-05-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2022.871877/full