Pseudodominant transmission of fructose intolerance in an adult and three offspring: Heterozygote detection by intestinal biopsy

N Engl J Med. 1982 Aug 26;307(9):537-40. doi: 10.1056/NEJM198208263070906.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Biopsy
  • Carbohydrate Metabolism, Inborn Errors / genetics*
  • Child, Preschool
  • Clinical Enzyme Tests
  • Female
  • Fructose Intolerance / diagnosis
  • Fructose Intolerance / genetics*
  • Fructose-Bisphosphate Aldolase / analysis
  • Fructose-Bisphosphate Aldolase / deficiency*
  • Genetic Carrier Screening*
  • Humans
  • Intestinal Mucosa / enzymology*
  • Liver / enzymology
  • Male
  • Middle Aged
  • Pedigree

Substances

  • Fructose-Bisphosphate Aldolase