An Unusual Case of GM2-Gangliosidosis with Deficiency of Hexosaminidase A and B

  • F. Van Hoof
  • Ph. Evrard
  • H. G. Hers
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 19)


In this report, we briefly describe a patient with GM2-gangliosidosis having a deficiency in both isoenzymes of N-acetyl-β-hexosaminidase and displaying several clinical, ultrastructural and enzymatic particularities.


Lamellar Inclusion Clear Vacuole Spastic Quadriparesis Diphenylhydantoin Intoxication Agranular Endoplasmic Reticulum 
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Copyright information

© Springer Science+Business Media New York 1972

Authors and Affiliations

  • F. Van Hoof
    • 1
  • Ph. Evrard
    • 1
  • H. G. Hers
    • 1
  1. 1.Laboratoire de Chimie Physiologique and Département de Neurologie InfantileUniversité de LouvainLouvainBelgium

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