Search for dissertations about: "Smith-Lemli-Opitz syndrome"

Found 1 swedish dissertation containing the words Smith-Lemli-Opitz syndrome.

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

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

    Abstract : 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. READ MORE