Aspartylglucosaminuria: deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parents

Clin Genet. 1973;4(3):297-300. doi: 10.1111/j.1399-0004.1973.tb01161.x.
No abstract available

MeSH terms

  • Amidohydrolases / metabolism*
  • Aspartic Acid / metabolism
  • Cells, Cultured
  • Chromatography, Ion Exchange
  • Chromatography, Paper
  • Female
  • Fibroblasts / enzymology*
  • Glucosamine / metabolism
  • Heterozygote
  • Humans
  • Male
  • Metabolism, Inborn Errors / enzymology*
  • Metabolism, Inborn Errors / genetics

Substances

  • Aspartic Acid
  • Amidohydrolases
  • Glucosamine