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
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.
Chen T et al.
Jama Network Open, 2023
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.
Pramparo T et al.
Orphanet Journal of Rare Diseases, 2023
Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy.
Xin S et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2022
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.
Zou D et al.
Brain : a Journal of Neurology, 2021
Spinal cerebrotendinous xanthomatosis: A case report and literature review.
Atallah I et al.
Molecular Genetics and Metabolism Reports, 2021
Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots.
Hong X et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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 molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.
Chen C et al.
Metabolic Brain Disease, 2017
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
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