I-cell disease: a clinical picture

J Pediatr. 1971 Sep;79(3):360-5. doi: 10.1016/s0022-3476(71)80142-7.
No abstract available

MeSH terms

  • Child
  • Child, Preschool
  • Consanguinity
  • Cytoplasmic Granules*
  • Facial Expression
  • Female
  • Fibroblasts / enzymology
  • Genes, Recessive
  • Glycosaminoglycans / metabolism*
  • Humans
  • Hydrolases / metabolism
  • Inclusion Bodies
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics
  • Lysosomes / enzymology
  • Male
  • Mucopolysaccharidosis I / diagnosis
  • Mucopolysaccharidosis I / genetics*

Substances

  • Glycosaminoglycans
  • Hydrolases