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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...
Autores principales: | Sánchez-Monteagudo, Ana, Ripollés, Edna, Berenguer, Marina, Espinós, Carmen |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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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 |
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