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...
Main Authors: | , , |
---|---|
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 |