𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Smith-Lemli-Opitz Syndrome: The First Malformation Syndrome Associated with Defective Cholesterol Synthesis

✍ Scribed by Kevin P. Battaile; Robert D. Steiner

Book ID
115639701
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
69 KB
Volume
71
Category
Article
ISSN
1096-7192

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Photosensitivity associated with the Smi
Photosensitivity associated with the Smith–Lemli–Opitz syndrome
✍ Charman; Ryan; Tyrrell; Pearse; Arlett; Kurwa; Shortland; Anstey 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 276 KB

A case of severe photosensitivity in a girl with the Smith-Lemli-Opitz syndrome is reported. Children with this recessively inherited metabolic disorder of cholesterol metabolism present with a variety of congenital abnormalities of the nervous system and internal organs in association with varying