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
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 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
Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene.
Köroğlu M et al.
Orphanet Journal of Rare Diseases, 2024
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.
Pramparo T et al.
Orphanet Journal of Rare Diseases, 2023
Cerebrotendinous xanthomatosis without neurological involvement.
Stelten BML et al.
Journal of Internal Medicine, 2021
Spinal cerebrotendinous xanthomatosis: A case report and literature review.
Atallah I et al.
Molecular Genetics and Metabolism Reports, 2021
Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis.
Höflinger P et al.
Journal of Lipid Research, 2021
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
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
Enzymes involved in the activation and inactivation of vitamin D.
Prosser DE et al.
Trends in Biochemical Sciences, 2004
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.
Verrips A et al.
Brain : a Journal of Neurology, 2000