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Clinically relevant therapeutic endpoints in type I Gaucher disease
Author(s) -
Hollak C. E. M.,
Maas M.,
Aerts J. M.
Publication year - 2001
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1012492429191
Subject(s) - medicine , organomegaly , disease , enzyme replacement therapy , cytopenia , intensive care medicine , quality of life (healthcare) , multisystem disease , pediatrics , bioinformatics , bone marrow , nursing , biology
Abstract 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.

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