Sandhoff’s Disease: Ultrastructural and Biochemical Studies

  • R. J. Desnick
  • P. D. Snyder
  • S. J. Desnick
  • W. Krivit
  • H. L. Sharp
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 19)


Sandhoff’s disease results from the deficient activity of both N-Acetyl-β-hexosaminidase A and B (14,17,19–22) and is characterized by the neural and visceral deposition of Gm2 ganglioside, its asialo derivative (NAcgal-gal-glc-cer) and globoside (NAcgal-gal-gal-glc-cer) in affected individuals (Figure 1) (3,6,9,10,14,19–22,24,25).


Multivesicular Body Urinary Sediment Culture Skin Fibroblast Deficient Activity Micron Section 
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Copyright information

© Springer Science+Business Media New York 1972

Authors and Affiliations

  • R. J. Desnick
    • 2
  • P. D. Snyder
    • 1
  • S. J. Desnick
    • 2
  • W. Krivit
    • 1
  • H. L. Sharp
    • 1
  1. 1.Department of PediatricsUniversity of Minnesota Medical SchoolMinneapolisUSA
  2. 2.Dight Institute for Human GeneticsUniversity of Minnesota Medical SchoolMinneapolisUSA

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