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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.

Serum 26-hydroxycholesterol was quantitated by isotope dilution-mass spectrometry in normal individuals and in patients with cerebrotendinous xanthomatosis. In the normal individuals, the concentration of 26-hydroxycholesterol in serum ranged from 4.3 to 13.0 microgram/100 ml. In five patients with CTX, 26-hydroxycholesterol in serum ranged from 0 to 0.6 microgram/100 ml. The findings can be explained by reduced or absent mitochondrial C27 steroid 26-hydroxylase activity. The method is useful for detection of CTX and perhaps other disturbances of sterol and bite acid metabolism.[1]


  1. Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol. Javitt, N.B., Kok, E., Cohen, B., Burstein, S. J. Lipid Res. (1982) [Pubmed]
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