Sterol balance in the Smith-Lemli-Opitz syndrome: reduction in whole body cholesterol synthesis and normal bile acid production

The Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation/mental retardation syndrome caused by a deficiency of the enzyme 7-dehydrocholesterol Δ7-reductase. This enzyme converts 7-dehydrocholesterol (7-DHC) to cholesterol in the last step in cholesterol biosynthesis. The pathology of this co...

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Autors principals:	Robert D. Steiner, Leesa M. Linck, Donna P. Flavell, Don S. Lin, William E. Connor
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2000-09-01
Col·lecció:	Journal of Lipid Research
Matèries:	hypocholesterolemia multiple malformations sterols 7-dehydrocholesterol 8-dehydrocholesterol gas chromatography
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S0022227520334568
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