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Clinical presentation and mutations in Danish patients with Wilson disease

This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990–2008, the prevalence was estimated to be 1:49 500. Among routinely used diagnostic tests, none were consistentl...

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Detalhes bibliográficos
Main Authors: Møller, Lisbeth Birk, Horn, Nina, Jeppesen, Tina Dysgaard, Vissing, John, Wibrand, Flemming, Jennum, Poul, Ott, Peter
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3179371/
https://ncbi.nlm.nih.gov/pubmed/21610751
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.80
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