Detection of heterozygotes for aspartylglucosaminuria (AGU) in cultured fibroblasts

Humangenetik. 1974;25(4):307-14. doi: 10.1007/BF00336906.
No abstract available

MeSH terms

  • Amidohydrolases / analysis*
  • Amidohydrolases / deficiency
  • Amniocentesis
  • Amniotic Fluid / enzymology
  • Carbohydrate Metabolism, Inborn Errors / urine*
  • Cells, Cultured
  • Family
  • Female
  • Fibroblasts / enzymology
  • Glucosamine / metabolism
  • Glucosamine / urine*
  • Heterozygote*
  • Hexosaminidases / analysis
  • Humans
  • Intellectual Disability / urine
  • Lysosomes / enzymology
  • Pregnancy
  • Prenatal Diagnosis*

Substances

  • Hexosaminidases
  • Amidohydrolases
  • Glucosamine