Rare Diseases

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CTX

Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report

2022-10-16

This study reports the clinical, biochemical, and molecular characterization of a 33-year-old female patient with cerebrotendinous xanthomatosis.

CTX

Prevalence of cerebrotendinous xanthomatosis in cases with idiopathic bilateral juvenile cataract in ophthalmology clinics in Turkey

2021-10-25

The aim of this study was to determine the prevalence of cerebrotendinous xanthomatosis (CTX) in patients with idiopathic bilateral juvenile cataract in Turkey.

CTX

Cerebrotendinous xanthomatosis: A report of 3 cases

2020-10-16

In this article, three cases of cerebrotendinous xanthomatosis with similar clinical symptoms are presented to demonstrate the necessity of early diagnosis.

CTX

Natural history of neurological abnormalities in cerebrotendinous xanthomatosis

2018-07-04

Highlights: The object of this study was to determine neurological progression in CTX. We provide estimates for the neurological progression of CTX, categorizing neurological abnormalities according to time and probability of development. Our approach may be applicable to other rare disorders.

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