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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
1982-9-10
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pubmed:abstractText |
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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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0022-2275
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
23
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
627-30
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:7097127-Brain Diseases, Metabolic,
pubmed-meshheading:7097127-Cytochrome P-450 CYP27A1,
pubmed-meshheading:7097127-Gas Chromatography-Mass Spectrometry,
pubmed-meshheading:7097127-Humans,
pubmed-meshheading:7097127-Hydroxycholesterols,
pubmed-meshheading:7097127-Lipid Metabolism, Inborn Errors,
pubmed-meshheading:7097127-Mitochondria,
pubmed-meshheading:7097127-Reference Values,
pubmed-meshheading:7097127-Steroid Hydroxylases,
pubmed-meshheading:7097127-Xanthomatosis
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pubmed:year |
1982
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pubmed:articleTitle |
Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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