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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Cerebrotendinous xanthomatosis with tremor as the main manifestation: A case report.
Zhao W et al.
Medicine, 2024
Cerebrotendinous xanthomatosis: a literature review and case study.
Matta A et al.
Frontiers in Cardiovascular Medicine, 2024
Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report.
Chang YY et al.
World Journal of Clinical Cases, 2022
Etiologic Puzzle of Coronary Artery Disease: How Important Is Genetic Component?
Butnariu LI et al.
Life (basel, Switzerland), 2022
Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report.
Koyama S et al.
Bmc Neurology, 2022
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S et al.
Jpgn Reports, 2022
First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century.
Badura-Stronka M et al.
Clinical Genetics, 2022
Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review.
Cao LX et al.
World Journal of Clinical Cases, 2020
Cerebrotendinous xanthomatosis with peripheral neuropathy: a clinical and neurophysiological study in Chinese population.
Zhang S et al.
Annals of Translational Medicine, 2020
A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis.
Tang Y et al.
The International Journal of Neuroscience, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
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
Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis.
Tao QQ et al.
Orphanet Journal of Rare Diseases, 2019
Nationwide survey on cerebrotendinous xanthomatosis in Japan.
Sekijima Y et al.
Journal of Human Genetics, 2018
Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report.
Yoon JY et al.
Annals of Rehabilitation Medicine, 2017
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.
Appadurai V et al.
Molecular Genetics and Metabolism, 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
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.
Verrips A et al.
Brain : a Journal of Neurology, 2000
Clinical and molecular genetic features of cerebrotendinous xanthomatosis in Taiwan: Report of a novel CYP27A1 mutation and literature review.
Lee CW et al.
Journal of Clinical Lipidology, 0