Skip to main content

Lysosomal Diseases and Fibroblast Cultures: Biochemical and Electron Microscopic Observations

  • Chapter
Sphingolipids, Sphingolipidoses and Allied Disorders

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 19))

Abstract

Most lysosomal diseases are fatal, often after a protracted downhill course that is painfully apparent to patient, parents and physician. This interim report relates our attempts to treat such patients; and to find ultrastructural and biochemical markers in fibroblast cultures for the study of pathophysiology and treatment of lysosomal disease.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 39.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Hug, G.: Non-bilirubin genetic disorders of the liver. International Academy of Pathology Monograph No. 13 “The Liver” ed. by E.A. Gall, The Williams and Wilkins Co. Baltimore, Md.; 1972.

    Google Scholar 

  2. Engel, A.G.: Acid maltase deficiency in adults: Studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies. Brain 93: 599, 1970.

    Google Scholar 

  3. Baudhuin, P., Hers, H.G., and Loeb, H.: An electron microscopic and biochemical study of Type II glycogenosis. Lab. Invest. 13: 1139, 1964.

    Google Scholar 

  4. Hers, H.G.: Alpha-glucosidase deficiency in generalized glycogen storage disease (Pompe’s disease). Biochem. J. 86: 11, 1963.

    Google Scholar 

  5. Hug, G., Garancis, J.C., Schubert, W.K., and Kaplan, S.: Glycogen storage disease, Types II, III, VIII, and IX. Amer. J. Dis. Child. 111: 457, 1966.

    Google Scholar 

  6. Hug, G. and Schubert, W.K.: Lysosomes in Type II glycogenosis. Changes during administration of extract from Aspergillus niger. J. Cell Biol. 35: C1, 1967.

    Google Scholar 

  7. Hug, G., Schubert, W.K., and Chuck, G.: Type II Glycogenosis: Treatment with extract of Aspergillus niger. Clin. Res. 16: 345, 1968.

    Google Scholar 

  8. Greene, H.L., Hug, G., and Schubert, W.K.: Metachromatic leukodystrophy: Treatment with arylsulfatase-A. Arch. Neurol. 20: 147, 1969.

    Google Scholar 

  9. Di Ferrante, N., Nichols, B.L., Donnelly, P.V., Neri, G., Hrgovcic, R. and Berglund, R.K.: Induced degradation of glycosaminoglycans in Hurler’s and Hunter’s syndromes by plasma infusion. Proc. Nat. Acad. Sci. U.S.A. 68: 303, 1971.

    Google Scholar 

  10. Porter, M.T., Fluharty, A.L., Kihara, H.: Metachromatic leukodystrophy: Arylsulfatase-A deficiency in skin fibroblast cultures. Proc. Nat. Acad. Sci. U.S.A. 62: 887, 1969.

    Google Scholar 

  11. Nitowsky, H.M. and Grumfeld, A.: Lysosomal alpha-glucosidase in Type II glycogenosis; activity in leucocytes and cell cultures in relation to genotype. J. Lab. Clin. Med. 69: 472, 1967.

    Google Scholar 

  12. Ho, M.W. and O’Brien, J.S.: Hurler’s syndrome: Deficiency of a specific beta galactosidase isoenzyme. Science 165: 611, 1969.

    Google Scholar 

  13. Fluharty, A.L., Porter, M.T., Lassila, E.L., Trammell, J., Carrel, R.E. and Kihara, H.: Acid glycosidases in mucopolysaccharidoses’ fibroblasts. Biochem. Med. 4: 110, 1970.

    Google Scholar 

  14. Hug, G., Schubert, W.K., and Soukup, S.: Ultrastructure and deficient arylsulfatase-A in fibroblast cultures of meta-chromatic leucodystrophy. J. Pediat. 76: 970, 1970.

    Google Scholar 

  15. Gregoire, A., Perier, 0., and Dustin, P. Jr.: Metachromatic Leukodystrophy: An electron microscopic study. J. Neuropath. Exp. Neurol. 25: 617, 1966.

    Google Scholar 

  16. Hug, G., Schubert, W.K., and Soukup, S.: Ultrastructure of fibroblast cultures, lymphocytes, and liver in mucopolysaccharidoses Types I, II, III, IV and VI. Proc. Electron Microscopy Society of America 28: 204, 1970.

    Google Scholar 

  17. Hug, G., Schubert, W.K., and Soukup, S.: Ultrastructure and enzymatic deficiency of fibroblast cultures in Type II glycogenosis. Pediat. Res. 5: 107, 1971.

    Google Scholar 

  18. Hug, G., Schubert, W.K., and Soukup, S.: Prenatal diagnosis of Type-II glycogenosis. Lancet 1: 1002, 1970.

    Google Scholar 

  19. Hug, G., Schubert, W.K., and Soukup, S.: Type II glycogenosis: Ultrastructure of amniotic fluid cells. In: Antenatal diagnosis, ed. by A. Dorfman, The University of Chicago Press, Chicago, Ill., 1972.

    Google Scholar 

  20. Hug, G., Schubert, W.K., and Soukup, S.: Electron microscopic demonstration of colloidal gold uptake into abnormal lysosomes of cultured fibroblasts from patients with Hurler’s syndrome and with Type II glycogenosis. Proc. Soc. Pediat. Res. 81: 5, 1971.

    Google Scholar 

  21. Okada, S., Veath, M.L., Leroy, J., and O’Brien, J.S.: Ganglioside GM2 storage diseases: Hexosaminidase deficiencies in cultured fibroblasts. Amer. J. Hum. Genet. 23: 55, 1971.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1972 Springer Science+Business Media New York

About this chapter

Cite this chapter

Hug, G., Schubert, W.K., Soukup, S. (1972). Lysosomal Diseases and Fibroblast Cultures: Biochemical and Electron Microscopic Observations. In: Volk, B.W., Aronson, S.M. (eds) Sphingolipids, Sphingolipidoses and Allied Disorders. Advances in Experimental Medicine and Biology, vol 19. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-6570-0_3

Download citation

  • DOI: https://doi.org/10.1007/978-1-4757-6570-0_3

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4757-6572-4

  • Online ISBN: 978-1-4757-6570-0

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics