Abetalipoproteinemia From Previously Unreported Gene Mutations

Ann Intern Med. 2019 Feb 5;170(3):211-213. doi: 10.7326/L18-0358. Epub 2018 Nov 6.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abetalipoproteinemia / diagnosis
  • Abetalipoproteinemia / genetics*
  • Abetalipoproteinemia / physiopathology
  • Abetalipoproteinemia / therapy
  • Adolescent
  • Carrier Proteins / genetics*
  • Diet, Fat-Restricted
  • Fatty Acids, Essential / administration & dosage
  • Female
  • Humans
  • Point Mutation
  • Sequence Deletion
  • Vitamins / administration & dosage

Substances

  • Carrier Proteins
  • Fatty Acids, Essential
  • Vitamins
  • microsomal triglyceride transfer protein