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)

Abstract

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.

Keywords

Lamellar Inclusion Clear Vacuole Spastic Quadriparesis Diphenylhydantoin Intoxication Agranular Endoplasmic Reticulum 
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

© 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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