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  • Title: Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.
    Author: Javitt NB, Kok E, Cohen B, Burstein S.
    Journal: J Lipid Res; 1982 May; 23(4):627-30. PubMed ID: 7097127.
    Abstract:
    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.
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