The dilemma to diagnose Wilson disease by genetic testing alone

BACKGROUND: Wilson disease (WD) is an autosomal recessive disorder of hepatic copper excretion. About sixty per cent of patients present with liver disease. WD is considered a fatal disease if undiagnosed and/or untreated but recent data indicate that disease penetrance may not be 100%. MATERIALS AN...

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Detalles Bibliográficos
Autores principales: Stättermayer, Albert Friedrich, Entenmann, Andreas, Gschwantler, Michael, Zoller, Heinz, Hofer, Harald, Ferenci, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6772051/
https://www.ncbi.nlm.nih.gov/pubmed/31169307
http://dx.doi.org/10.1111/eci.13147

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6772051/
https://www.ncbi.nlm.nih.gov/pubmed/31169307
http://dx.doi.org/10.1111/eci.13147

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