Hereditary phytosterolaemia

Br J Haematol. 2019 Oct;187(2):137. doi: 10.1111/bjh.16076. Epub 2019 Jul 8.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily G, Member 5 / genetics*
  • Adult
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / pathology
  • Heterozygote*
  • Humans
  • Hypercholesterolemia / diagnosis
  • Hypercholesterolemia / genetics*
  • Intestinal Diseases / diagnosis
  • Intestinal Diseases / genetics*
  • Lipid Metabolism, Inborn Errors / diagnosis
  • Lipid Metabolism, Inborn Errors / genetics*
  • Lipoproteins / genetics*
  • Male
  • Mutation*
  • Phytosterols / adverse effects*
  • Phytosterols / genetics
  • Phytosterols / physiology

Substances

  • ABCG5 protein, human
  • ATP Binding Cassette Transporter, Subfamily G, Member 5
  • Lipoproteins
  • Phytosterols

Supplementary concepts

  • Sitosterolemia