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...

Descripció completa

Dades bibliogràfiques

Autors principals:	Anuradha S. Pappu, William E. Connor, Louise S. Merkens, Julia M. Jordan, Jennifer A. Penfield, D. Roger Illingworth, Robert D. Steiner
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2006-12-01
Col·lecció:	Journal of Lipid Research
Matèries:	mevalonate 24 hour urine farnesyl pyrophosphate sterols 7-dehydrocholesterol
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S0022227520432717
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!