Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol

Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol

Infants with the cholesterol synthesis defect Smith-Lemli-Opitz syndrome (SLO) have reduced activity of the enzyme 7-dehydrocholesterol-7-reductase and accumulate 7-dehydrocholesterol, with the highest concentration in the brain. As a result of the generally reduced content of cholesterol, plasma le...

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Bibliographic Details
Main Authors: Ingemar Björkhem, Lena Starck, Ulla Andersson, Dieter Lütjohann, Sara von Bahr, Irina Pikuleva, Amir Babiker, Ulf Diczfalusy
Format: Article
Language:English
Published: Elsevier 2001-03-01
Series:Journal of Lipid Research
Subjects:
CYP7B
CYP27
CYP46
7-dehydrocholesterol
brain sterols
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520316606

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http://www.sciencedirect.com/science/article/pii/S0022227520316606

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