Article
Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset type II glycogenosis?
Molecular genetics and metabolism - 1 Sept 2012
Ravaglia Sabrina, De Filippi Paola, Pichiecchio Anna, Ponzio Michela, Saeidi Garaghani Kolsoum, Poloni Guy Umberto, Bini Paola, Danesino Cesare
Abstract excerpt
The purpose of this study is to analyze the role of genes known to influence muscle performances on the outcome after enzyme replacement treatment (ERT) in type II Glycogenosis (GSDII). We analyzed 16 patients receiving ERT for ≥two years. We assessed the changes in muscle strength by hand-held dynamometry, muscle mass by quantitative MRI, and resistance to exercise by the 6-minute walking test. Exercise gene...
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