Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report

• Main Authors: Maurizio Delvecchio (Author), Biagio Rapone (Author), Simonetta Simonetti (Author), Simona Fecarotta (Author), Graziana De Carlo (Author), Elvira Favoino (Author), Maria Teresa Loverro (Author), Anna Maria Isdraele Romano (Author), Federica Taurino (Author), Edoardo Di Naro (Author), Antonio Gnoni (Author)
• Format: Book
• Published: BMC, 2020-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic neurodevelopmental disorder caused by the defect in the 7-dehydrocholesterol reductase. This defect leads to the deficiency of cholesterol biosynthesis with accumulation of 7-dehydrocholesterol. Inhibitory factor 1 (IF1) is a we...