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Wilson’s Disease with Neurological Presentation, without Hepatic Involvement in Two Siblings
Wilson’s Disease (WD) is a rare, autosomal, recessive, inborn error of the copper metabolism, which is caused by a mutation in the copper-transporting gene, ATP7B. The presentation is usually neurologic or hepatic, which is seen in 40% of the patients. The diagnosis depends primarily on the clinical...
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| Hlavní autoři: | , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
JCDR Research and Publications (P) Limited
2013
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3749670/ https://ncbi.nlm.nih.gov/pubmed/23998100 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7860/JCDR/2013/5974.3188 |
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