Chargement en cours...

Analysis of Short-term Behavioral Effects of Dietary Cholesterol Supplementation in Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of cholesterol synthesis due to mutations of DHCR7. DHCR7 catalyzes the reduction of 7-dehydrocholesterol to yield cholesterol in the final step of cholesterol biosynthesis. Phenotypically patients with SLOS have multiple malformations, cognitive...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Tierney, Elaine, Conley, Sandra K., Goodwin, Halima, Porter, Forbes D.
Format: Artigo
Langue:Inglês
Publié: 2010
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2799534/
https://ncbi.nlm.nih.gov/pubmed/20014133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33148
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!