Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,Neurology
Link
http://link.springer.com/content/pdf/10.1007/s00415-019-09377-y.pdf
Reference19 articles.
1. Appadurai V et al (2015) Apparent underdiagnosis of cerebrotendinous xanthomatosis revealed by analysis of ~ 60, 000 human exomes. Mol Genet Metab 116(4):298–304
2. Salen G, Steiner RD (2017) Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX). J Inherit Metab Dis 40(6):771–781
3. Degos B et al (2016) Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood. Orphanet J Rare Dis 11(1):41
4. Berginer VM, Salen G, Shefer S (1984) Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med 311(26):1649–1652
5. Gallus GN, Dotti MT, Federico A (2006) Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. Neurol Sci 27:143–149
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