Pathologic lysosomes and increased urinary glycosylceramide excretion in Fabry's disease. Studies on a family with evidence of linkage with the sex-linked blood group Xg

Lab Invest. 1971 Jul;25(1):1-14.
No abstract available

MeSH terms

  • Adult
  • Angiokeratoma / genetics
  • Angiokeratoma / pathology
  • Basement Membrane / pathology
  • Biopsy
  • Blood Group Antigens*
  • Capillaries / pathology
  • Chromatography, Thin Layer
  • Corneal Opacity / genetics
  • Corneal Opacity / pathology
  • Duodenum / pathology
  • Genes
  • Glycolipids / metabolism*
  • Humans
  • Inclusion Bodies
  • Kidney / pathology
  • Lipid Metabolism, Inborn Errors / genetics*
  • Lipid Metabolism, Inborn Errors / pathology
  • Lipid Metabolism, Inborn Errors / urine
  • Liver / pathology
  • Lymph Nodes / pathology
  • Lysosomes*
  • Male
  • Microscopy, Electron
  • Middle Aged
  • Pedigree
  • Sex Chromosomes*
  • Skin / pathology
  • Sphingolipids / metabolism
  • Sweating
  • Urine / analysis

Substances

  • Blood Group Antigens
  • Glycolipids
  • Sphingolipids