Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype-Reference-Cited by-同舟云学术

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Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype

Published:2005 Issue:2 Volume:139A Page:114-117
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Guyant-Maréchal Lucie,Verrips Aad,Girard Carole,Wevers Ron A.,Zijlstra Fokje,Sistermans Erik,Vera Pierre,Campion Dominique,Hannequin Didier

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference11 articles.

1. Long-Term Treatment of Cerebrotendinous Xanthomatosis with Chenodeoxycholic Acid

2. Role of the 26-hydroxylase in the biosynthesis of bile acids in the normal state and in cerebrotendinous xanthomatosis. An in vivo study.

3. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.

4. Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis

5. Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria

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1. Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study;Journal of Inherited Metabolic Disease;2024-06-19

2. Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia;Frontiers in Neurology;2023-03-07

3. Cerebrotendinous Xanthomatosis;Essentials of Cerebellum and Cerebellar Disorders;2023

4. Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain;Neurology Genetics;2022-11-14

5. Tuberous xanthomatosis is not necessarily associated with increased plasma concentrations of cholestanol in cerebrotendinous xanthomatosis;Journal of Internal Medicine;2022-09-20

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