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Sterols and Oxysterols in Plasma from Smith-Lemi-Opitz Syndrome Patients
Smith-Lemli-Opitz syndrome (SLOS) is a severe autosomal recessive disorder resulting from defects in the cholesterol synthesising enzyme 7-dehydrocholesterol reductase (Δ(7)-sterol reductase, DHCR7, EC 1.3.1.21) leading to a build-up of the cholesterol precursor 7-dehydrocholesterol (7-DHC) in tissu...
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| Publicado en: | J Steroid Biochem Mol Biol |
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| Main Authors: | , , , , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2016
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5018427/ https://ncbi.nlm.nih.gov/pubmed/26976653 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jsbmb.2016.03.018 |
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