A patient with Smith–Lemli–Opitz syndrome: novel mutation of theDHCR7gene and effects of therapy with simvastatin and cholesterol supplement
✍ Scribed by Gabriella P. Szabó; Anna V. Oláh; Libor Kozak; Erzsébet Balogh; Andrea Nagy; Ivona Blahakova; Éva Oláh
- Publisher
- Springer
- Year
- 2009
- Tongue
- English
- Weight
- 70 KB
- Volume
- 169
- Category
- Article
- ISSN
- 0340-6997
No coin nor oath required. For personal study only.
📜 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
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital anomaly syndrome caused by deficiency of 7-dehydrocholesterol reductase (DHCR7), which catalyzes the last step of endogenous cholesterol synthesis. Surveys of SLOS patients have identified more than one hundred point mu