Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols
โ Scribed by Abuelo, Dianne N. ;Tint, G. S. ;Kelley, Richard ;Batta, Ashok K. ;Shefer, Sarah ;Salen, Gerald
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 528 KB
- Volume
- 56
- Category
- Article
- ISSN
- 0148-7299
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The Smith-Lemli-Opitz syndrome (SLOS) is a common condition caused by deficiency of 7-dehydrocholesterol โฌ 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
SmithยฑLemliยฑOpitz syndrome (SLOS), an autosomal recessive condition with multiple malformations, mental retardation, and growth failure, results from markedly reduced activity of the ยฎnal enzyme in the cholesterol biosynthetic pathway, 7-dehydrocholesterol D 7 -reductase (DHCR7). We diagnosed SLOS i
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