"Kolestanol" search results...

CTX

A case of cerebrotendinous xanthomatosis with brain and spinal involvement without tendon xanthomas: Identification of a novel mutation of the CYP27A1 gene

2022-05-01

This case report emphasizes the necessity of keeping a high index of suspicion as the key to a timely diagnosis of cerebrotendinous xanthomatosis (CTX), which has a clinical diversity and, if detected early, the favorable treatment response.

CTX

Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings

2021-01-08

In this study reports two siblings who have cerebrotendinous xanthomatosis (CTX). The atypical biochemical presentation of these cases emphasizes the importance of a comprehensive investigation of patients with symptomatology consistent with CTX.

CTX

Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review

2020-11-06

This article is a case study that includes a Chinese family with Cerebrotendinous xanthomatosis (CTX) which had one patient and four heterozygous carriers. The clinical, biological, radiological, and genetic characteristics of CTX are summarized in order to aid in early detection and treatment. This study emphasizes that genetic analysis of the CYP27A1 gene should be the gold standard for CTX diagnosis.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

CTX

A case of cerebrotendinous xanthomatosis with brain and spinal involvement without tendon xanthomas: Identification of a novel mutation of the CYP27A1 gene

CTX

Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings

CTX

Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review

News and Events

ASHG 2025

ESHG - Avrupa İnsan Genetiği Konferansı 2025

World Orphan Drug Congress 2025

Gene2info provides genetic diagnoce service for 23 of rare diseases