Sökning: "dehydrocholesterols"

Hittade 1 avhandling innehållade ordet dehydrocholesterols.

1. 1. Smith-Lemli-Opitz syndrome : a disorder of cholesterol synthesis : diagnosis, treatment and pathogenetic aspects

   Författare :Lena Starck; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Smith-Lemli-Opitz syndrome; cholesterol; cholesterol treatment; dehydrocholesterols; lathosterol; oxysterols; blood paper specimens; simvastatin; clinical scoring.;

   Sammanfattning : In 1993 it was first suggested that the Smith-Lemli-Opitz syndrome (SLOS), described almost 30 years earlier as a malformation syndrome, is caused by defective synthesis of cholesterol. Hypocholesterolaemia and accumulation of the immediate precursor 7-dehydrocholesterol was consistent with deficient activity of the enzyme in the last step of the synthesis, 7-dehydrocholesterol-7-reductase. LÄS MER