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Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

Wilson disease (WD) is a rare disorder caused by mutations in ATP7B, which leads to the defective biliary excretion of copper. The subsequent gradual accumulation of copper in different organs produces an extremely variable clinical picture, which comprises hepatic, neurological psychiatric, ophthal...

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Detalles Bibliográficos
Autores principales: Sánchez-Monteagudo, Ana, Ripollés, Edna, Berenguer, Marina, Espinós, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8471362/
https://www.ncbi.nlm.nih.gov/pubmed/34572285
http://dx.doi.org/10.3390/biomedicines9091100