Cerebrotendinous xanthomatosis - A case report
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder resulting from a defective enzyme in bile acid synthesis pathway leading to neurological, ocular, vascular, and musculoskeletal symptoms from deposition of cholestanol and cholesterol in these tissues. We present clinical an...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Thieme Medical and Scientific Publishers Pvt. Ltd.
2019-07-01
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Series: | Indian Journal of Radiology and Imaging |
Subjects: | |
Online Access: | http://www.thieme-connect.de/DOI/DOI?10.4103/ijri.IJRI_444_18 |