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Recent Observations on Gaucher’s Disease

  • J. N. Kanfer
  • S. S. Raghaven
  • R. A. Mumford
  • J. Sullivan
  • C. Spielvogel
  • G. Legler
  • R. S. Labow
  • D. G. Williamson
  • D. S. Layne
Part of the Advances in Experimental Medicine and Biology book series (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.

Keywords

Control Brain Acid Hydrolase Metachromatic Leukodystrophy Glucosidase Activity Hydrolytic Enzyme Activity 
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.

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Copyright information

© Plenum Press, New York 1976

Authors and Affiliations

  • J. N. Kanfer
    • 1
  • S. S. Raghaven
    • 1
  • R. A. Mumford
    • 1
  • J. Sullivan
    • 1
  • C. Spielvogel
    • 1
  • G. Legler
    • 2
  • R. S. Labow
    • 3
  • D. G. Williamson
    • 3
  • D. S. Layne
    • 3
  1. 1.Eunice Kennedy Shriver CenterWalthamUSA
  2. 2.Institut für BiochemieUniversität KölnKölnGermany
  3. 3.Department of BiochemistryUniversity of OttawaOttawaCanada

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