Genetic Disorders of Mucopolysaccharide Metabolism

  • Elizabeth F. Neufeld
  • Robert W. Barton


The genetic mucopolysaccharidoses are a rare but potentially most instructive group of diseases. For at the root of the complex anatomical, neurological, and biochemical aberrations seen in each of the mucopolysaccharidoses lies a single malfunctioning protein—the product of a single genetic error. To the investigator, the problem is therefore crystallized: identify the defective protein and discover its normal function. Only then will it be possible to understand the exact pathophysiology of these diseases.


Heparan Sulfate Chondroitin Sulfate Dermatan Sulfate Keratan Sulfate Hunter Syndrome 
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 1973

Authors and Affiliations

  • Elizabeth F. Neufeld
    • 1
  • Robert W. Barton
    • 1
  1. 1.National Institute of Arthritis and Metabolic DiseasesNational Institutes of HealthBethesdaUSA

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