"I-cell" disease: leakage of lysosomal enzymes into extracellular fluids

N Engl J Med. 1971 Nov 4;285(19):1090-1. doi: 10.1056/NEJM197111042851922.
No abstract available

MeSH terms

  • Adult
  • Cell Membrane / metabolism
  • Child
  • Culture Techniques
  • Extracellular Space / enzymology*
  • Female
  • Fibroblasts / enzymology
  • Hexosaminidases / analysis
  • Humans
  • Inclusion Bodies
  • Lysosomes / enzymology*
  • Male
  • Metabolism, Inborn Errors / enzymology*
  • Metabolism, Inborn Errors / pathology
  • Sulfatases / analysis

Substances

  • Sulfatases
  • Hexosaminidases