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Recent Observations on Gaucher’s Disease

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Current Trends in Sphingolipidoses and Allied Disorders

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 68))

Abstract

Gaucher’s disease has been classically defined biochemically as having an accumulation of glucosylceramide in concert with a decreased associated hydrolytic enzyme activity (1) in tissues from affected individuals. This reduced enzymatic activity was originally demonstrated using glucosylceramide as substrates (2) however, p-nitrophenol (pNP) or 4 methylumbelliferyl (4MU) β-glucose (3) and glucosylsphinogosine (4) cleavage are also reduced in tissue samples from affected individuals.

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Author information

Authors and Affiliations

  1. Eunice Kennedy Shriver Center, 200 Trapelo Road, Waltham, Massachusetts, USA

    J. N. Kanfer, S. S. Raghaven, R. A. Mumford, J. Sullivan & C. Spielvogel

  2. Institut für Biochemie, Universität Köln, Köln, Germany

    G. Legler

  3. Department of Biochemistry, University of Ottawa, Ottawa, Ontario, Canada, KIN 9A9

    R. S. Labow, D. G. Williamson & D. S. Layne

Authors
  1. J. N. Kanfer
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  2. S. S. Raghaven
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  3. R. A. Mumford
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  4. J. Sullivan
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  5. C. Spielvogel
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  6. G. Legler
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  7. R. S. Labow
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  8. D. G. Williamson
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  9. D. S. Layne
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Editor information

Editors and Affiliations

  1. Kingsbrook Jewish Medical Center, Isaac Albert Research Institute, USA

    Bruno W. Volk

  2. Downstate Medical Center, State University of New York, USA

    Bruno W. Volk  & Larry Schneck  & 

  3. Neuroscience Center, Kingsbrook Jewish Medical Center, USA

    Larry Schneck

  4. Birth Defects Center, Isaac Albert Research Institute, USA

    Larry Schneck

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© 1976 Plenum Press, New York

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Kanfer, J.N. et al. (1976). Recent Observations on Gaucher’s Disease. In: Volk, B.W., Schneck, L. (eds) Current Trends in Sphingolipidoses and Allied Disorders. Advances in Experimental Medicine and Biology, vol 68. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-7735-1_6

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  • DOI: https://doi.org/10.1007/978-1-4684-7735-1_6

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4684-7737-5

  • Online ISBN: 978-1-4684-7735-1

  • eBook Packages: Springer Book Archive

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