𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Effects of cholesterol and simvastatin treatment in patients with Smith–Lemli–Opitz syndrome (SLOS)

✍ Scribed by D. Haas; S. F. Garbade; C. Vohwinkel; N. Muschol; F. K. Trefz; J. M. Penzien; J. Zschocke; G. F. Hoffmann; P. Burgard

Publisher
Springer
Year
2007
Tongue
English
Weight
650 KB
Volume
30
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Clinical effects of cholesterol suppleme
Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)
✍ Elias, Ellen R.; Irons, Mira B.; Hurley, Anne D.; Tint, G. Stephen; Salen, Geral 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 153 KB 👁 2 views

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

Cholesterol and bile acid replacement th
Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome
✍ Nwokoro, Ngozi A.; Mulvihill, John J. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 332 KB 👁 2 views

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

Identification of nine novel DHCR7 misse
Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)
✍ John S. Waye; Patrycja A. Krakowiak; Christopher A. Wassif; Allison L. Sterner; 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 159 KB 👁 1 views

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

Clinical and biochemical spectrum of pat
Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism
✍ Cunniff, Christopher; Kratz, Lisa E.; Moser, Ann; Natowicz, Marvin R.; Kelley, R 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 203 KB 👁 2 views

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