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Molecular genetics of Gaucher disease. Shoji TSUJI 1 1Department of Neurology, Brain Research Institute, Niigata University pp.588-595
Published Date 1989/8/10
DOI https://doi.org/10.11477/mf.1431906313
  • Abstract
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 Gaucher disease is a sphingolipidosis caused by a deficiency of a lysosomal acid hydrolase, glucocerebrosidase. The enzyme deficiency results in accumulation of its substrate, glucocerebrosidase, predominantly in reticuloendothelial system. On the basis of clinical symptoms and signs, three major phenotypes have been established; type 1 (chronic non-neuronopathic form), type 2 (acute neuronopathic form) and type 3 (subacute neuronopathic form).


Copyright © 1989, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1243 印刷版ISSN 0001-8724 医学書院

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