Cerebrotendinous xanthomatosis: clinical and imaging clues of a rare treatable cause of ataxia-Reference-Cited by-同舟云学术

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Cerebrotendinous xanthomatosis: clinical and imaging clues of a rare treatable cause of ataxia

Published:2022-07 Issue:7 Volume:15 Page:e250714
ISSN:1757-790X
Container-title:BMJ Case Reports
language:en
Short-container-title:BMJ Case Rep

Author:

Magriço Marta^ORCID,Cabral Pedro,Bugalho Paulo^ORCID

Publisher

BMJ

Subject

General Medicine

Reference4 articles.

1. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene

2. Presence of Diarrhea and Absence of Tendon Xanthomas in Patients With Cerebrotendinous Xanthomatosis

3. A neurological rarity not to be missed: cerebrotendinous xanthomatosis

4. Cerebrotendinous xanthomatosis: The rare "treatable" disease you never consider;Raymond;Neurology,2019

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