Genetic heterogeneity in multiple lysosomal hydrolase deficiency

J Pediatr. 1974 Aug;85(2):192-8. doi: 10.1016/s0022-3476(74)80391-4.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Cells, Cultured
  • Cervical Vertebrae / diagnostic imaging
  • Child
  • Fibroblasts / enzymology
  • Fibroblasts / metabolism
  • Glucuronidase / analysis
  • Glycosaminoglycans / analysis
  • Hand Deformities, Acquired / diagnostic imaging
  • Humans
  • Hydrolases / analysis
  • Hydrolases / blood
  • Leukocytes
  • Lysosomes / enzymology*
  • Male
  • Mucopolysaccharidoses / diagnostic imaging
  • Mucopolysaccharidoses / enzymology
  • Mucopolysaccharidoses / genetics*
  • Mucopolysaccharidoses / pathology
  • Pelvic Bones / diagnostic imaging
  • Radiography
  • Sulfur Radioisotopes

Substances

  • Glycosaminoglycans
  • Sulfur Radioisotopes
  • Hydrolases
  • Glucuronidase