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 clin...

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Bibliographic Details
Main Authors: Mani Kant Kumar, Vijay Kumar, Praphul Kumar Singh
Format: Article
Language:English
Published: JCDR Research and Publications Private Limited 2013-07-01
Series:Journal of Clinical and Diagnostic Research
Subjects:
Online Access:https://jcdr.net/articles/PDF/3188/58%20-%205974_PF1(M)_E(C)_F(H)_PF1(H)_PFA(P)_OLF_PF1(PUH)_1_u(P).pdf