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References

These sources were used to develop the Genetics Home Reference condition summary on cerebrotendinous xanthomatosis.

Bhattacharyya AK, Lin DS, Connor WE. Cholestanol metabolism in patients with cerebrotendinous xanthomatosis: absorption, turnover, and tissue deposition. J Lipid Res. 2007 Jan;48(1):185-92. Epub 2006 Oct 1. PubMed citation
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 Jun;27(2):143-9. Review. PubMed citation
Lorincz MT, Rainier S, Thomas D, Fink JK. Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized. Arch Neurol. 2005 Sep;62(9):1459-63. PubMed citation
Moghadasian MH, Salen G, Frohlich JJ, Scudamore CH. Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations. Arch Neurol. 2002 Apr;59(4):527-9. Review. PubMed citation
Moghadasian MH. Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds. Clin Invest Med. 2004 Feb;27(1):42-50. Review. PubMed citation

Reviewed: March 2008

Published: February 6, 2009