Wilson’s Disease: First Report of Two Combined Mutational Variants in a Portuguese Patient

Wilson’s disease is a rare autosomal recessive condition. A defect on the copper carrier protein ATP7B prevents the excretion of copper, which then accumulates in several organs. The prognosis of Wilson’s disease is favourable if the diagnosis is made early. The Leipzig criteria standardized phenoty...

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Detalles Bibliográficos
Autores principales: Trindade, Miguel, Carvalho, Joana, Barosa, Mariana, Serôdio, João, Oliveira, Ricardo, Furtado, Ana, Favas, Catarina, Alves, José Delgado
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SMC Media Srl 2022
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8833306/
https://www.ncbi.nlm.nih.gov/pubmed/35169583
http://dx.doi.org/10.12890/2022_003141

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8833306/
https://www.ncbi.nlm.nih.gov/pubmed/35169583
http://dx.doi.org/10.12890/2022_003141

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