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Variability of Expressivity of α-Fucosidase Deficiency

  • Vimalkumar Patel
  • Wolfgang Zeman
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 68)

Abstract

Following its discovery by Durand, et al., (1966), fucosidosis has been defined as a grave disease of infancy and early childhood with premature death. This concept had to be modified when Patel, et al., (1972) observed hitherto unknown aspects of this enzyme defect, namely the occurrence of angiokeratoma corporis diffusum and extension of the lifespan into adulthood. Nevertheless, their patient also had severe mental retardation, was dwarfed, and exhibited gargoylian features.

Keywords

Severe Mental Retardation Enzyme Defect Lysosomal Accumulation Kidney Extract Lysosomal Disease 
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

  • Vimalkumar Patel
    • 1
  • Wolfgang Zeman
    • 1
  1. 1.Division of NeuropathologyIndiana University Medical CenterIndianapolisUSA

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