Concepedia

Long‐term follow‐up of Wilson Disease: natural history, treatment, mutations analysis and phenotypic correlation

Radan Brůha, Z Mareček, Lenka Pospíšilová, Soňa Nevšímalová, Pavel Martásek, J Nevoral, J Petrtýl, Petr Urbánek, Alena Jirásková, Péter Ferenci

Liver International · 2010 · 143 citations · 22 references

DOI

Abstract

Long-term follow-up shows a satisfactory response in the great majority of adequately treated patients with WD and survival coincides with that of the general population.

References

22

The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene

Peter C. Bull, Gordon R. Thomas, Johanna M. Rommens et al. · Nature Genetics · 1993 · 1.9K citations

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The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

Rudolph E. Tanzi, Konstantin Petrukhin, Jean‐Luc Pellequer et al. · Nature Genetics · 1993 · 1.4K citations

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Diagnosis and treatment of Wilson disease: An update

Eve A. Roberts, Michael L. Schilsky · Hepatology · 2008 · 1.3K citations · Full text

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Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: a cohort study

Uta Merle, Mark Schaefer, Péter Ferenci et al. · Gut · 2006 · 612 citations · Full text

The Wilson disease gene: spectrum of mutations and their consequences

Gordon R. Thomas, John Forbes, Eve A. Roberts et al. · Nature Genetics · 1995 · 571 citations

, , +11