Tint et al. [N Engl J Med 1994, 330:107-113], working with blood samples from the Smith-Lemli-Opitz syndrome (SLOS) patients of Irons and Elias showed the biochemical basis of this disorder to be a cholesterol biosynthesis defect [Irons et al., Lancet, 1993, 341:1414]. Based on this finding, clinica
RSH/SLO (Smith-Lemli-Opitz) syndrome: Designing a high cholesterol diet for the SLO syndrome
✍ Scribed by Acosta, Phyllis B.
- Book ID
- 102702326
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 578 KB
- Volume
- 50
- 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
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