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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...

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Autori principali: Tierney, Elaine, Conley, Sandra K., Goodwin, Halima, Porter, Forbes D.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2010
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Accesso online: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
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