Pathophysiology of cerebrotendinous xanthomatosis
Author:
Affiliation:
1. Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Yamagata University Faculty of Medicine
Publisher
Societas Neurologica Japonica
Subject
Clinical Neurology
Link
https://www.jstage.jst.go.jp/article/clinicalneurol/56/12/56_cn-000962/_pdf
Reference47 articles.
1. 1) Nie S, Chen G, Cao X, et al. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. Orphanet J Rare Dis 2014;9:179.
2. 2) Gallus GN, Dotti MT, Federico A. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. Neurol Sci 2006;27:143-149.
3. 3) Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo JR, et al. Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey. Eur J Neurol 2011;10:1203-1211.
4. 4) Cali JJ, Hsieh CL, Francke U, et al. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem 1991;266:7779-7783.
5. 5) DeBarber AE, Luo J, Star-Weinstock M, et al. A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns. J Lipid Res 2014;55:146-154.
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