Beta Glucuronidase Deficiency: Report of Clinical, Radiologic, and Biochemical Features of a New Mucopolysaccharidosis

J Pediatr. 1973 Feb;82(2):249-57. doi: 10.1016/s0022-3476(73)80162-3.

MeSH terms

  • Bone Diseases, Developmental / enzymology*
  • Carbohydrate Metabolism, Inborn Errors* / diagnostic imaging
  • Carbohydrate Metabolism, Inborn Errors* / genetics
  • Carbohydrate Metabolism, Inborn Errors* / urine
  • Fibroblasts / enzymology
  • Glucuronidase / metabolism*
  • Glycosaminoglycans / metabolism*
  • Glycosaminoglycans / urine
  • Hand Deformities, Congenital
  • Humans
  • Infant, Newborn
  • Leukocytes / enzymology
  • Lysosomes / enzymology
  • Male
  • Pedigree
  • Radiography
  • Skin / enzymology
  • Skull / diagnostic imaging
  • Spine / abnormalities

Substances

  • Glycosaminoglycans
  • Glucuronidase