Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management-Reference-Cited by-同舟云学术

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Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management

Published:2014-11-26 Issue:1 Volume:9 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Nie Shuke,Chen Guiqin,Cao Xuebing,Zhang Yunjian

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-014-0179-4.pdf

Reference104 articles.

1. Cali JJ, Hsieh CL, Francke U, Russell DW: Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem. 1991, 266: 7779-7783.

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. Bjorkhem I, Hansson M: Cerebrotendinous xanthomatosis: an inborn error in bile acid synthesis with defined mutations but still a challenge. Biochem Biophys Res Commun. 2010, 396: 46-49.

4. Lorincz MT, Rainier S, Thomas D, Fink JK: Cerebrotendinous xanthomatosis - Possible higher prevalence than previously recognized. Arch Neurol. 2005, 62: 1459-1463.

5. Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo JR, Pardo J, Arias M, Ares-Luque A, Duarte J, Muniz-Perez S, Sobrido MJ: Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey. Eur J Neurol. 2011, 18: 1203-1211.

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