Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency

Humangenetik. 1974 Jul 15;23(2):149-58. doi: 10.1007/BF00282212.
No abstract available

MeSH terms

  • Child, Preschool
  • Female
  • Fibroblasts / enzymology
  • Glucuronidase / analysis
  • Glucuronidase / blood
  • Glucuronidase / metabolism*
  • Glycosaminoglycans / urine
  • Hepatomegaly / complications
  • Heterozygote
  • Humans
  • Infant
  • Intellectual Disability / complications
  • Leukocytes / enzymology
  • Male
  • Mucopolysaccharidoses / complications
  • Mucopolysaccharidoses / enzymology*
  • Mucopolysaccharidoses / urine
  • Splenomegaly / complications

Substances

  • Glycosaminoglycans
  • Glucuronidase