Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset Type II Glycogenosis?

Article ID	Journal	Published Year	Pages	File Type
8344045	Molecular Genetics and Metabolism	2012	7 Pages	PDF

Abstract

âº GSDII is a chronic myopathy due to mutations in GAA gene. âº Wide clinical variations are observed also in patients sharing the same mutations. âº ERT is available for GSD II but a subgroup of patients has a poor response. âº Genetic polymorphisms influencing muscle structure could modulate response to ERT. âº We can trace a polygenic profile influencing treatment response.

Keywords

Volumetric MRI enzyme replacement therapy Glycogen storage disease type II Genetic polymorphisms

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry

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Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset Type II Glycogenosis?

Authors

Sabrina Ravaglia, Paola De Filippi, Anna Pichiecchio, Michela Ponzio, Kolsoum Saeidi Garaghani, Guy Umberto Poloni, Paola Bini, Cesare Danesino,