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Lipidomic analysis of the retina in a rat model of Smith–Lemli–Opitz syndrome: alterations in docosahexaenoic acid content of phospholipid molecular species

✍ Scribed by David A. Ford; Julie K. Monda; Richard S. Brush; Robert E. Anderson; Michael J. Richards; Steven J. Fliesler

Book ID: 111180704
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 704 KB
Volume: 105
Category: Article
ISSN: 0022-3042
DOI: 10.1111/j.1471-4159.2007.05203.x

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The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive condition involving craniofacial and central nervous system malformations with occasional holoprosencephaly (HPE). It is caused by a defect in the 7-dehydrocholesterol (7-DHC) reductase, the enzyme catalyzing the last step of cholestero