The fact that Smith-Lemli-Opitz syndrome (SLOS), a syndrome comprising major malformations involving a number of organ systems, results from an abnormality in cholesterol biosynthesis, was discovered only recently. Utilizing a drug (BM 15.766) to inhibit the same step in cholesterol biosynthesis as
Abnormal serotonergic development in a mouse model for the Smith–Lemli–Opitz syndrome: implications for autism
✍ Scribed by H Waage-Baudet; J.M Lauder; D.B Dehart; K Kluckman; S Hiller; G.S Tint; K.K Sulik
- Book ID
- 116551241
- Publisher
- Elsevier Science
- Year
- 2003
- Tongue
- English
- Weight
- 448 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0736-5748
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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
The Smith-Lemli-Opitz syndrome (SLOS) is a common condition caused by deficiency of 7-dehydrocholesterol ⌬ 7 -reductase. The syndrome can usually be diagnosed by demonstrating markedly increased plasma concentrations of the cholesterol precursor, 7-dehydrocholesterol. We describe a simple and rapid