The Mainz Severity Score Index (MSSI): development and validation of a system for scoring the signs and symptoms of Fabry disease |
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Authors: | Michael Beck |
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Institution: | Children's Hospital, University of Mainz, Mainz, Germany |
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Abstract: | Fabry disease is a rare lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme α-galactosidase A. The resultant storage of undegraded glycolipids leads to the progressive development of potentially life-threatening manifestations affecting multiple organ systems in the body. This paper describes the development of the Mainz Severity Score Index (MSSI), a scoring system for patients with Fabry disease. Conclusion: The MSSI score has been proven to be representative in patients with 'classic' Fabry disease and may be useful for monitoring clinical improvement in patients receiving enzyme replacement therapy. |
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Keywords: | Fabry disease MSSI |
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