Infantile sialic acid storage disease in two siblings

J Inherit Metab Dis. 1988:11 Suppl 2:259-62. doi: 10.1007/BF01804252.
No abstract available

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Carbohydrate Metabolism, Inborn Errors / diagnosis
  • Carbohydrate Metabolism, Inborn Errors / genetics*
  • Female
  • Fibroblasts / enzymology
  • Humans
  • Hydrolases
  • Infant
  • Leukocytes / enzymology
  • Lysosomes / enzymology
  • Lysosomes / metabolism
  • Male
  • Oligosaccharides / urine
  • Sialic Acids / metabolism*
  • Sialic Acids / urine

Substances

  • Oligosaccharides
  • Sialic Acids
  • Hydrolases