I-Cell Disease


Prenatal Diagnosis Lysosomal Enzyme Electron Dense Deposit Lysosomal Enzyme Activity Myelinated Nerve Fibre 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. Carey WF, Jaunzems A, Richardson M, Fong BA, Chin SJ, and Nelson PV (1999) Prenatal diagnosis of mucolipidosis II-electron microscopy and biochemical evaluation. Prenat Diagn 19: 252CrossRefPubMedGoogle Scholar
  2. Endo H, Miyazaki T, Asano S, and Sagami S (1987) Ultrastructural studies of the skin and cultured fibroblasts in I-cell disease. J Cutan Pathol 14: 309PubMedGoogle Scholar
  3. Glickman JN, and Kornfeld S (1993) Mannose 6-phosphate-independent targeting of lysosomal enzymes in I-cell disease B lymphoblasts. J Cell Biol 123: 99CrossRefPubMedGoogle Scholar
  4. Hasilik A, Waheed A, and von Figura K (1981) Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in I-cell fibroblasts. Biochem Biophys Res Commun 98: 761CrossRefPubMedGoogle Scholar
  5. Honey NK, Mueller OT, Little LE, Miller AL, and Shows TB (1982) Mucolipidosis III is genetically heterogeneous. Proc Natl Acad Sci USA 79: 7420PubMedGoogle Scholar
  6. Kornfeld S, and Sly WS (2001) I-cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localisation. In: The metabolic and molecular bases of inherited disease (Scriver C, Beaudet A, Valle D, and Sly WS, eds). New York: McGraw-Hill, pp 3469Google Scholar
  7. Reitman M, Varki A, and Kornfeld S (1981) Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5’-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity. J Clin Invest 67: 1574PubMedGoogle Scholar
  8. Vladutiu GD, and Rattazzi MC (1979) Excretion-reuptake route of beta-hexosaminidase in normal and I-cell disease cultured fibroblasts. J Clin Invest 63: 595PubMedGoogle Scholar

Copyright information

© Springer-Verlag/Wien 2005

Personalised recommendations