𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Cyclopia (synophthalmia) in Smith–Lemli–Opitz syndrome: First reported case and consideration of mechanism

✍ Scribed by David D. Weaver; Benjamin D. Solomon; Kelly Akin-Samson; Richard I. Kelley; Maximilian Muenke

Book ID
101455828
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
150 KB
Volume
154C
Category
Article
ISSN
1552-4868

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Abnormal cholesterol metabolism in the S
Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient
✍ Irons, Mira ;Elias, Ellen Roy ;Tint, G. S. ;Salen, Gerald ;Frieden, Roger ;Buie, 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 630 KB

We report on four patients with the Smith-Lemli-Opitz (SLO) syndrome who appear to have a defect in cholesterol biosynthesis. The initial results of therapy of one of the patients with cholesterol and bile acids to correct her metabolic abnormalities are described. This finding provides a biochemica

Sterol concentrations in cultured Smith-
Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts: Diagnosis of a biochemically atypical case of the syndrome
✍ Honda, Akira; Tint, G. Stephen; Salen, Gerald; Kelley, Richard I.; Honda, Megumi 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 154 KB 👁 1 views

The Smith-Lemli-Opitz syndrome is a common birth defect syndrome caused by a deficiency of 7-dehydrocholesterol ⌬ 7 -reductase, an essential enzyme in the biosynthesis of cholesterol. The syndrome can usually be diagnosed easily from the plasma markers of markedly elevated 7-dehydrocholesterol and r