Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol

Smith-Lemli-Opitz syndrome (SLOS) is an inherited autosomal recessive cholesterol deficiency disorder. Our studies have shown that in SLOS children, urinary mevalonate excretion is normal and reflects hepatic HMG-CoA reductase activity but not ultimate sterol synthesis. Hence, we hypothesized that i...

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Hlavní autoři:	Anuradha S. Pappu, William E. Connor, Louise S. Merkens, Julia M. Jordan, Jennifer A. Penfield, D. Roger Illingworth, Robert D. Steiner
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2006-12-01
Edice:	Journal of Lipid Research
Témata:	mevalonate 24 hour urine farnesyl pyrophosphate sterols 7-dehydrocholesterol
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S0022227520432717
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