𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Smith–Lemli–Opitz syndrome with extremely low plasma cholesterol

✍ Scribed by V. Bzdúch; D. Behúlová; L. Kozák; J. Škodová; E. Véghová; A. Dello Russo; G. Corso; F. Bauer


Book ID
110226788
Publisher
Springer
Year
2000
Tongue
English
Weight
31 KB
Volume
23
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Smith-Lemli-Opitz syndrome: phenotypic e
✍ Nowaczyk, Malgorzata J.M.; Whelan, Donald T.; Hill, Robert E. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 2 views

Smith-Lemli-Opitz syndrome (SLO) is caused by inherited enzymatic deficiency of 7-dehydrocholesterol-⌬ 7 -reductase and resultant cholesterol deficiency. It comprises a characteristic combination of facial features, malformations, and mental retardation. We report on three related patients (two brot