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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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Bibliografische gegevens
Hoofdauteurs: Møller, Lisbeth Birk, Horn, Nina, Jeppesen, Tina Dysgaard, Vissing, John, Wibrand, Flemming, Jennum, Poul, Ott, Peter
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2011
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Online toegang: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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