The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Neurologic Wilson's disease
Open accessAbstract
Despite a long history, Wilson's disease, an autosomal recessive disease caused by mutations in the ATP7B gene, remains a commonly misdiagnosed import disease. Mutations in ATP7B result in abnormal copper metabolism and subsequent toxic accumulation of copper. Clinical manifestations of neurologic Wilson's disease include variable combinations of dysarthria, dystonia, tremor, and choreoathetosis. Among neurodegenerative diseases, it is unusual in that misdiagnosis and delay in treatment are clinically relevant because treatments can prevent and cure Wilson's disease, if they are given appropriately. If left untreated, Wilson's disease progresses to hepatic failure or severe neurologic disability and death, while those adequately treated have normal life spans. This review focuses on the neurologic features of Wilson's disease, its diagnosis, and treatment options.
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Citations
Cites
Oral zinc therapy for Wilson's disease
BREWER, G. J., HILL, G. M., PRASAD, A. S., COSSACK, Z. T., & RABBANI, P. (1983) · Annals of Internal Medicine · doi:10.7326/0003-4819-99-3-314 · Cited by 244
Cited by
Essential metals in health and disease
Jomova, K., Makova, M., Alomar, S. Y., Alwasel, S. H., Nepovimova, E., Kuca, K., Rhodes, C. J., & Valko, M. (2022) · Chemico-Biological Interactions · doi:10.1016/j.cbi.2022.110173 · Cited by 1,121
Metadata
- Authors
- Lorincz, M. T.
- Venue
- Annals of the New York Academy of Sciences
- Publisher
- Wiley
- Published
- 2010-01
- Volume
- 1184
- Issue
- 1
- Pages
- 173-187
- ISSN
- 0077-8923 (ISSN-L)
- 1749-6632
- OpenAlex
- W1587735356
- Cited by
- 370
- References
- 1
- FWCI
- 11.74
- Type
- journal article
- Language
- en
- Open access
- green
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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