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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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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2010
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| Assuntos: | |
| Acceso en liña: | 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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