𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A Highly Sensitive Method for Analysis of 7-Dehydrocholesterol for the Study of Smith-Lemli-Opitz Syndrome (SLOS)

✍ Scribed by Liu, Wei; Xu, Libin; Lamberson, Connor; Haas, Dorothea; Korade, Zeljka; Porter, Ned A

Book ID
122291423
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
91 KB
Volume
65
Category
Article
ISSN
0891-5849

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Dehydrosteroid measurements in maternal
Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith–Lemli–Opitz syndrome (SLOS)
✍ Cedric H.L. Shackleton; Josep Marcos; Glenn E. Palomaki; Wendy Y. Craig; Richard 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 127 KB 👁 2 views

## Abstract In a large multi‐center trial involving prenatal screening for Smith–Lemli–Opitz syndrome (SLOS), we evaluated maternal urine and serum steroid analysis as a non‐invasive diagnostic alternative to amniotic fluid sterol analysis. Candidate steroid ratios included: 7‐dehydropregnanetriol/

Screening for abnormal cholesterol biosy
Screening for abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome: Rapid determination of plasma 7-dehydrocholesterol by ultraviolet spectrometry
✍ Honda, Akira; Batta, Ashok K.; Salen, Gerald; Tint, G. Stephen; Chen, Thomas S.; 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 155 KB 👁 2 views

The Smith-Lemli-Opitz syndrome (SLOS) is a common condition caused by deficiency of 7-dehydrocholesterol ⌬ 7 -reductase. The syndrome can usually be diagnosed by demonstrating markedly increased plasma concentrations of the cholesterol precursor, 7-dehydrocholesterol. We describe a simple and rapid