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

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 ...

Source: Italian Journal of Pediatrics - October 28, 2020 Category: Pediatrics Authors: Maurizio Delvecchio, Biagio Rapone, Simonetta Simonetti, Simona Fecarotta, Graziana De Carlo, Elvira Favoino, Maria Teresa Loverro, Anna Maria Isdraele Romano, Federica Taurino, Edoardo Di Naro and Antonio Gnoni Tags: Case report Source Type: research