Author:
Lier J.,Bergner C.G.,Köhler W.
Publisher
Springer Science and Business Media LLC
Reference15 articles.
1. Appadurai V, DeBarber A, Chiang PW et al (2015) Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes. Mol Genet Metab 116(4):298–304. https://doi.org/10.1016/j.ymgme.2015.10.010
2. Berginer VM, Salen G, Shefer S (1984) Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med 311(26):1649–1652. https://doi.org/10.1056/NEJM198412273112601
3. Brass EP, Stelten BML, Verrips A (2020) Cerebrotendinous xanthomatosis-associated diarrhea and response to chenodeoxycholic acid treatment. JIMD Rep 56(1):105–111. https://doi.org/10.1002/jmd2.12163
4. Cali JJ, Hsieh CL, Francke U, Russell DW (1991) Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem 266(12):7779–7783
5. Federico A, Gallus GN (2022) Cerebrotendinous Xanthomatosis. In: Adam MP, Everman DB, Mirzaa GM et al (Hrsg) GeneReviews. University of Washington, Seattle, S 1993–2023 (https://www.ncbi.nlm.nih.gov/books/NBK1409/. 2003 Jul 16 [Updated 2022 Mar 17])