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

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Sphingolipids, Sphingolipidoses and Allied Disorders

Part of the book series: Advances in Experimental Medicine and Biology ((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.

Supported by the Belgian FRSM and by NIH Grant AM-9235. We are grateful to Dr. G. Jonniaux for the analysis of brain gangliosides.

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References

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Author information

Authors and Affiliations

  1. Laboratoire de Chimie Physiologique and Département de Neurologie Infantile, Université de Louvain, Louvain, Belgium

    F. Van Hoof, Ph. Evrard & H. G. Hers

Authors
  1. F. Van Hoof
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  2. Ph. Evrard
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  3. H. G. Hers
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Editor information

Editors and Affiliations

  1. Isaac Albert Research Institute of the Kingsbrook Jewish Medical Center and Department of Pathology, Downstate Medical Center, State University of New York, Brooklyn, New York, USA

    Bruno W. Volk

  2. Department of Pathology, Miriam Hospital and Brown University, Providence, Rhode Island, USA

    Stanley M. Aronson

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© 1972 Springer Science+Business Media New York

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Van Hoof, F., Evrard, P., Hers, H.G. (1972). An Unusual Case of GM2-Gangliosidosis with Deficiency of Hexosaminidase A and B. In: Volk, B.W., Aronson, S.M. (eds) Sphingolipids, Sphingolipidoses and Allied Disorders. Advances in Experimental Medicine and Biology, vol 19. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-6570-0_24

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  • DOI: https://doi.org/10.1007/978-1-4757-6570-0_24

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4757-6572-4

  • Online ISBN: 978-1-4757-6570-0

  • eBook Packages: Springer Book Archive

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