Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.

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...

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Bibliographic Details
Main Authors: N B Javitt, E Kok, B Cohen, S Burstein
Format: Article
Language:English
Published: Elsevier 1982-05-01
Series:Journal of Lipid Research
Online Access:http://www.sciencedirect.com/science/article/pii/S002222752038127X
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spelling doaj-5998cdd1179f4d3da3315dee746410fc2021-04-24T05:50:52ZengElsevierJournal of Lipid Research0022-22751982-05-01234627630Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.N B JavittE KokB CohenS BursteinSerum 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.http://www.sciencedirect.com/science/article/pii/S002222752038127X
collection DOAJ
language English
format Article
sources DOAJ
author N B Javitt
E Kok
B Cohen
S Burstein
spellingShingle N B Javitt
E Kok
B Cohen
S Burstein
Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.
Journal of Lipid Research
author_facet N B Javitt
E Kok
B Cohen
S Burstein
author_sort N B Javitt
title Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.
title_short Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.
title_full Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.
title_fullStr Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.
title_full_unstemmed Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.
title_sort cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.
publisher Elsevier
series Journal of Lipid Research
issn 0022-2275
publishDate 1982-05-01
description 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.
url http://www.sciencedirect.com/science/article/pii/S002222752038127X
work_keys_str_mv AT nbjavitt cerebrotendinousxanthomatosisreducedserum26hydroxycholesterol
AT ekok cerebrotendinousxanthomatosisreducedserum26hydroxycholesterol
AT bcohen cerebrotendinousxanthomatosisreducedserum26hydroxycholesterol
AT sburstein cerebrotendinousxanthomatosisreducedserum26hydroxycholesterol
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