Associated Papers
Juvenile-Onset Cerebrotendinous Xanthomatosis with Novel Compound Heterozygous CYP27A1 Mutations: Case Series and Literature Review.
Du K et al.
Cerebellum (london, England), 2026
Information Theory Analysis of CTX Shows Consistent Clinical Presentation.
Hanson J et al.
Journal of Inherited Metabolic Disease, 2025
Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis.
Clayton PT et al.
Journal of Inherited Metabolic Disease, 2025
A case series of nine patients with cerebrotendinous xanthomatosis from India and a systematized review of Indian literature.
Mustafa F et al.
Parkinsonism & Related Disorders, 2025
Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis - a Video Case Series from India.
Katragadda P et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2024
Cerebrotendinous xanthomatosis: a literature review and case study.
Matta A et al.
Frontiers in Cardiovascular Medicine, 2024
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.
Pramparo T et al.
Orphanet Journal of Rare Diseases, 2023
c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis.
Jiang J et al.
Frontiers in Genetics, 2020
Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis.
Kulkarni SD et al.
Indian Pediatrics, 2016
Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population.
Dutta AK et al.
Molecular Genetics and Metabolism Reports, 2015
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.
Gallus GN et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2006
Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.
Clayton PT et al.
Journal of Inherited Metabolic Disease, 2002
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.
Verrips A et al.
Brain : a Journal of Neurology, 2000
Mutation analysis of cerebrotendinous xanthomatosis in an Indian case.
Shah K et al.
Neurology India, 0