This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
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: 252
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: 309
Glickman JN, and Kornfeld S (1993) Mannose 6-phosphate-independent targeting of lysosomal enzymes in I-cell disease B lymphoblasts. J Cell Biol 123: 99
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: 761
Honey NK, Mueller OT, Little LE, Miller AL, and Shows TB (1982) Mucolipidosis III is genetically heterogeneous. Proc Natl Acad Sci USA 79: 7420
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 3469
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: 1574
Vladutiu GD, and Rattazzi MC (1979) Excretion-reuptake route of beta-hexosaminidase in normal and I-cell disease cultured fibroblasts. J Clin Invest 63: 595
Rights and permissions
Copyright information
© 2005 Springer-Verlag/Wien
About this chapter
Cite this chapter
(2005). I-Cell Disease. In: Functional Ultrastructure. Springer, Vienna. https://doi.org/10.1007/3-211-26392-6_52
Download citation
DOI: https://doi.org/10.1007/3-211-26392-6_52
Publisher Name: Springer, Vienna
Print ISBN: 978-3-211-83564-7
Online ISBN: 978-3-211-26392-1
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)