Detection of Fabry hemizygotes and heterozygotes by measurement of -galactosidase in urine

Clin Chim Acta. 1972 Aug;40(1):229-35. doi: 10.1016/0009-8981(72)90275-6.
No abstract available

MeSH terms

  • Acetates / urine
  • Adolescent
  • Adult
  • Aged
  • Carrier State / enzymology
  • Child
  • Child, Preschool
  • Circadian Rhythm
  • Dialysis
  • Drug Storage
  • Female
  • Galactosidases / urine*
  • Glycolipids / urine*
  • Heterozygote
  • Hexosaminidases / urine
  • Homozygote
  • Humans
  • Infant
  • Lipid Metabolism, Inborn Errors / diagnosis*
  • Lipid Metabolism, Inborn Errors / enzymology
  • Lipid Metabolism, Inborn Errors / genetics
  • Lipid Metabolism, Inborn Errors / urine
  • Male
  • Middle Aged

Substances

  • Acetates
  • Glycolipids
  • Galactosidases
  • Hexosaminidases