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Wilson disease

Published:2018-09-06 Issue:1 Volume:4 Page:
ISSN:2056-676X
Container-title:Nature Reviews Disease Primers
language:en
Short-container-title:Nat Rev Dis Primers

Author:

Członkowska Anna,Litwin Tomasz,Dusek Petr,Ferenci Peter,Lutsenko Svetlana,Medici Valentina,Rybakowski Janusz K.,Weiss Karl Heinz,Schilsky Michael L.

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

http://www.nature.com/articles/s41572-018-0018-3.pdf

Reference210 articles.

1. Bandmann, O., Weiss, K. H. & Kaler, S. G. Wilson’s disease and other neurological copper disorders. Lancet Neurol. 14, 103–113 (2015).

2. Ferenci, P. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum. Genet. 120, 151–159 (2006).

3. DzieŻyc, K., Karliński, M., Litwin, T. & Członkowska, A. Compliant treatment with anti-copper agents prevents clinically overt Wilson’s disease in pre-symptomatic patients. Eur. J. Neurol. 21, 332–337 (2013).

4. European Association for Study of Liver. EASL Clinical Practice Guidelines: Wilson’s disease. J. Hepatol. 56, 671–685 (2012). These guidelines are the current best practice for the management of WD from the EASL.

5. Roberts, E. A. & Schilsky, M. L. Diagnosis and treatment of Wilson disease: an update. Hepatology 47, 2089–2111 (2008). These guidelines are the current best practice for the diagnosis and treatment of WD from the AASLD.

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4. Epidemiology of Wilson disease in Germany – real-world insights from a claims data study;Orphanet Journal of Rare Diseases;2024-09-11

5. From bioinformatics to clinical applications: a novel prognostic model of cuproptosis-related genes based on single-cell RNA sequencing data in hepatocellular carcinoma;BMC Immunology;2024-09-09

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