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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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Detalles Bibliográficos
Autores principales: Dev, Som, Kruse, Robert L., Hamilton, James P., Lutsenko, Svetlana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9108485/
https://www.ncbi.nlm.nih.gov/pubmed/35586338
http://dx.doi.org/10.3389/fcell.2022.871877