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
Cerebrotendinous Xanthomatosis occurs at high frequency in Ashkenazi Jews.
Hanson J et al.
Molecular Genetics and Metabolism, 2025
Update on cerebrotendinous xanthomatosis.
DeBarber AE et al.
Current Opinion in Lipidology, 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
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_
Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment.
DeBarber AE et al.
Journal of Lipid Research, 2018
[OXALATE STONES ARE PREVALENT AMONG DRUZE AND MUSLIM ARABS IN THE GALILEE].
Kalfon L et al.
Harefuah, 2017
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
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