Use of fibroblast culture to diagnose and genotype familial hypercholesterolaemia

Ann Nutr Metab. 1982;26(4):240-7. doi: 10.1159/000176569.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Cells, Cultured
  • Child
  • Cholesterol / biosynthesis
  • Cholesterol / metabolism*
  • Cholesterol Esters / metabolism*
  • Female
  • Fibroblasts / metabolism
  • Heterozygote
  • Homozygote
  • Humans
  • Hydroxymethylglutaryl CoA Reductases / metabolism*
  • Hyperlipoproteinemia Type II / diagnosis*
  • Hyperlipoproteinemia Type II / metabolism
  • Lipoproteins, LDL / metabolism
  • Male

Substances

  • Cholesterol Esters
  • Lipoproteins, LDL
  • Cholesterol
  • Hydroxymethylglutaryl CoA Reductases