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
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.
Pramparo T et al.
Orphanet Journal of Rare Diseases, 2023
36650582 (PubMed )
Supplement: 13023_2022_2578_MOESM1_ESM.xlsx › ClinVar_missense_annotated
Spinal cerebrotendinous xanthomatosis: A case report and literature review.
Atallah I et al.
Molecular Genetics and Metabolism Reports, 2021
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
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.
Appadurai V et al.
Molecular Genetics and Metabolism, 2015
[Cerebrotendinous xanthomatosis, a rare, severe, but treatable metabolic disorder].
Delstanche S et al.
Revue Medicale De Liege, 2013
Structural motif-based homology modeling of CYP27A1 and site-directed mutational analyses affecting vitamin D hydroxylation.
Prosser DE et al.
Biophysical Journal, 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
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