INTRODUCTION: The clinical course of late-onset Pompe disease is heterogeneous, and new clinical outcome measures are needed to evaluate enzyme replacement therapy (ERT). METHODS: We correlated the 6-Minute Walk Test (6MWT), Walton and Gardner-Medwin (WGM) score, and GSGC (Gait, Stairs, Gower, Chair) scores in 40 patients. RESULTS: At baseline, the GSGC score correlated with both WGM (P < 0.001, n = 33) and 6MWT (P < 0.001, n = 26). After 1 year of ERT, we observed a significant change in gait, stairs and chair performance on the GSGC scale. The 6MWT significantly increased from 319 to 371 meters in 32 patients, and the WGM score was reduced. CONCLUSIONS: GSGC is a group of functional tests that requires only a few minutes to perform, there...
Objective: To examine respiratory muscle function among late-onset Pompe disease (LOPD) patients in ...
Pompe disease (PD) is a glycogen storage disorder caused by deficient activity of acid alpha-glucosi...
International audienceBackground and ObjectivesThe French Pompe disease registry was created in 2004...
INTRODUCTION: The clinical course of late-onset Pompe disease is heterogeneous, and new clinical out...
INTRODUCTION: The clinical course of late-onset Pompe disease is heterogeneous, and new clinical out...
The clinical course of late-onset Pompe disease is heterogeneous, and new clinical outcome measures ...
Contains fulltext : 111047.pdf (publisher's version ) (Open Access)ABSTRACT: BACKG...
In patients with late-onset Pompe disease (LOPD), the efficacy of the enzyme replacement therapy (ER...
Background: Enzyme replacement therapy (ERT) with alglucosidase alfa improves the prospect of patien...
Late-onset Pompe disease (LOPD) is a rare, progressive disorder characterized by limb–girdle muscle ...
textabstractAbstract. Background: Enzyme replacement therapy (ERT) in adults with Pompe disease, a p...
Abstract Pompe disease is a lysosomal storage disorder characterized by progressive muscle weakness....
textabstractObjectives: Pompe disease is a progressive metabolic myopathy for which enzyme replaceme...
BACKGROUND: ADVANCE (NCT01526785) presented an opportunity to obtain a more nuanced understanding of...
Purpose: Enzyme replacement therapy (ERT) has recently became available for Pompe disease. Data on t...
Objective: To examine respiratory muscle function among late-onset Pompe disease (LOPD) patients in ...
Pompe disease (PD) is a glycogen storage disorder caused by deficient activity of acid alpha-glucosi...
International audienceBackground and ObjectivesThe French Pompe disease registry was created in 2004...
INTRODUCTION: The clinical course of late-onset Pompe disease is heterogeneous, and new clinical out...
INTRODUCTION: The clinical course of late-onset Pompe disease is heterogeneous, and new clinical out...
The clinical course of late-onset Pompe disease is heterogeneous, and new clinical outcome measures ...
Contains fulltext : 111047.pdf (publisher's version ) (Open Access)ABSTRACT: BACKG...
In patients with late-onset Pompe disease (LOPD), the efficacy of the enzyme replacement therapy (ER...
Background: Enzyme replacement therapy (ERT) with alglucosidase alfa improves the prospect of patien...
Late-onset Pompe disease (LOPD) is a rare, progressive disorder characterized by limb–girdle muscle ...
textabstractAbstract. Background: Enzyme replacement therapy (ERT) in adults with Pompe disease, a p...
Abstract Pompe disease is a lysosomal storage disorder characterized by progressive muscle weakness....
textabstractObjectives: Pompe disease is a progressive metabolic myopathy for which enzyme replaceme...
BACKGROUND: ADVANCE (NCT01526785) presented an opportunity to obtain a more nuanced understanding of...
Purpose: Enzyme replacement therapy (ERT) has recently became available for Pompe disease. Data on t...
Objective: To examine respiratory muscle function among late-onset Pompe disease (LOPD) patients in ...
Pompe disease (PD) is a glycogen storage disorder caused by deficient activity of acid alpha-glucosi...
International audienceBackground and ObjectivesThe French Pompe disease registry was created in 2004...