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
โฆ LIBER โฆ
Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome
โ Scribed by Linck, L.M. ;Lin, D.S. ;Flavell, D. ;Connor, W.E. ;Steiner, R.D.
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 103 KB
- Volume
- 93
- Category
- Article
- ISSN
- 0148-7299
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We describe the clinical effects of cholesterol supplementation in 6 children with the RSH-"Smith-Lemli-Opitz" syndrome (SLOS). The children ranged in age from birth to 11 years at the onset of therapy, with pretreatment cholesterol levels ranging from 8 to 62 mg/dl. Clinical benefits of therapy wer