Relation between biomarkers and clinical severity in patients with Smith–Lemli–Opitz syndrome
✍ Scribed by Anna V. Oláh, Gabriella P. Szabó, József Varga…
- Book ID
- 120907964
- Publisher
- Springer
- Year
- 2013
- Tongue
- English
- Weight
- 253 KB
- Volume
- 172
- Category
- Article
- ISSN
- 0340-6997
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📜 SIMILAR VOLUMES
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
RSH/Smith-Lemli-Opitz (RSH/SLO) syndrome is an autosomal recessive malformation syndrome recently shown to be associated with a severe deficiency of cholesterol biosynthesis and markedly elevated plasma and tissue levels of 7-dehydrocholesterol (7-DHC), the immediate precursor of cholesterol in the