𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Selective antibody immune deficiency in a patient with Smith–Lemli–Opitz syndrome

✍ Scribed by D. Babovic-Vuksanovic; R. M. Jacobson; N. M. Lindor; C. R. Weiler


Publisher
Springer
Year
2005
Tongue
English
Weight
128 KB
Volume
28
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Novel 7-DHCR mutation in a child with Sm
✍ Patrono, C.; Rizzo, C.; Tessa, A.; Giannotti, A.; Borrelli, P.; Carrozzo, R.; Pi 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by minor facial anomalies, mental retardation, and multiple congenital abnormalities. Biochemically, the disorder is caused by deficient activity of 7-dehydrocholesterol reductase, which catalyzes the reduction of the

Normal cognition and behavior in a Smith
✍ Mueller, C. ;Patel, S. ;Irons, M. ;Antshel, K. ;Salen, G. ;Tint, G.S. ;Bay, C. 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 487 KB 👁 1 views

## Abstract Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis. It is caused by mutations in the gene encoding the enzyme 7‐dehydrocholesterol Δ7‐reductase (DHCR7), which catalyzes the final step in cholesterol biosynthesis, usually resulting in cholest