Beta-glucuronidase deficiency mucopolysaccharidosis

Birth Defects Orig Artic Ser. 1974;10(12):239-45.
No abstract available

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Biopsy
  • Bone and Bones / abnormalities
  • Cells, Cultured
  • Child, Preschool
  • Fibroblasts / enzymology
  • Glucuronidase / blood
  • Glucuronidase / deficiency*
  • Glucuronidase / metabolism
  • Glycosaminoglycans / urine
  • Hepatomegaly
  • Humans
  • Infant
  • Intellectual Disability
  • Leukocytes / enzymology
  • Male
  • Mucopolysaccharidoses* / diagnosis
  • Mucopolysaccharidoses* / genetics
  • Mucopolysaccharidoses* / metabolism
  • Pneumonia
  • Skin
  • Syndrome

Substances

  • Glycosaminoglycans
  • Glucuronidase