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The expanding spectrum of disorders with elevated plasma chitotriosidase activity:An update

  • Published:
Journal of Inherited Metabolic Disease

Abstract

Summary: A striking elevation of plasma chitotriosidase activity, greater than 150 times the normal median value, was found in two galactosialidosis patients. Furthermore, increased plasma chitotriosidase activity, 10–53 times the normal median value, was also observed in fucosidosis, glycogen storage disease type IV, Alagille syndrome and hydrops fetalis due to congenital herpes virus infection.

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Author notes

  1. H. Michelakakis

    Present address: Department of Enzymology and Cellular Function, Institute of Child Health, 11527, Athens, Greece. E-mail

Authors and Affiliations

  1. Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece

    H. Michelakakis & E. Dimitriou

  2. Neonatal Intensive Care Unit, General Hospital Nikea-Piraeus, Greece

    I. Labadaridis

Authors
  1. H. Michelakakis
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  2. E. Dimitriou
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  3. I. Labadaridis
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Michelakakis, H., Dimitriou, E. & Labadaridis, I. The expanding spectrum of disorders with elevated plasma chitotriosidase activity:An update. J Inherit Metab Dis 27, 705–706 (2004). https://doi.org/10.1023/B:BOLI.0000043025.17721.fc

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  • DOI: https://doi.org/10.1023/B:BOLI.0000043025.17721.fc

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