Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series-Reference-Cited by-同舟云学术

Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series

Published:2016-11-25 Issue:3 Volume:38 Page:481-483
ISSN:1590-1874
Container-title:Neurological Sciences
language:en
Short-container-title:Neurol Sci

Author:

Zádori Dénes,Szpisjak László,Madar László,Varga Viktória Evelin,Csányi Bernadett,Bencsik Krisztina,Balogh István,Harangi Mariann,Kereszty Éva,Vécsei László,Klivényi Péter

Funder

Hungarian Brain Research Program

János Bolyai Research Scholarship of the Hungarian Academy of Sciences

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Clinical Neurology,Dermatology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s10072-016-2776-6.pdf

Reference8 articles.

1. Bjorkhem I (2013) Cerebrotendinous xanthomatosis. Curr Opin Lipidol 24(4):283–287. doi: 10.1097/MOL.0b013e328362df13

2. Verrips A, Hoefsloot LH, Steenbergen GC, Theelen JP, Wevers RA, Gabreels FJ, van Engelen BG, van den Heuvel LP (2000) Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain 123(Pt 5):908–919. doi: 10.1093/brain/123.5.908

3. 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(2):143–149. doi: 10.1007/s10072-006-0618-7

4. Chiang JY (1998) Regulation of bile acid synthesis. Front Biosci 3:d176–d193

5. Nagai Y, Hirano M, Mori T, Takakura Y, Tamai S, Ueno S (1996) Japanese triplets with cerebrotendinous xanthomatosis are homozygous for a mutant gene coding for the sterol 27-hydroxylase (Arg441Trp). Neurology 46(2):571–574. doi: 10.1212/WNL.46.2.571

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