Journal of Inherited Metabolic Disease

, Volume 24, Supplement 2, pp 97–105 | Cite as

Clinically relevant therapeutic endpoints in type I Gaucher disease

  • C. E. M. Hollak
  • M. Maas
  • J. M. Aerts


The introduction of enzyme supplementation therapy for Gaucherdisease has had a great impact on the lives of many patients. Organomegaly, cytopenia and bone disease have been shown to improve in response to treatment, resulting in an improvement in quality of life. However, the assessment of organ system involvement is not always done in such a way that the relationship with clinically relevant endpoints is clear. The lack of adequately validated methods of assessment, especially for bone disease, has hindered the establishment of treatment goals and guidelines for treatment optimization.


Enzyme Replacement Therapy Gauche Disease Liver Volume Enzyme Therapy Gauche Cell 
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Copyright information

© Kluwer Academic Publishers 2001

Authors and Affiliations

  • C. E. M. Hollak
    • 1
  • M. Maas
    • 1
  • J. M. Aerts
    • 1
  1. 1.Department of Hematology F4-224Academic Medical CenterAmsterdamThe Netherlands

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