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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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| Publicado no: | Eur J Clin Invest |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6772051/ https://ncbi.nlm.nih.gov/pubmed/31169307 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/eci.13147 |
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