Background: Due partly to physicians' unawareness, many adults with Pompe disease are diagnosed with great delay. Besides, it is not well known which factors influence the rate of disease progression, and thus disease outcome. We delineated the specific clinical features of Pompe disease in adults, and mapped out the distribution and severity of muscle weakness, and the sequence of involvement of the individual muscle groups. Furthermore, we defined the natural disease course and identified prognostic factors for disease progression.Methods: We conducted a single-center, prospective, observational study. Muscle strength (manual muscle testing, and hand-held dynamometry), muscle function (quick motor function test), and pulmonary function (f...
International audienceBackground and ObjectivesThe French Pompe disease registry was created in 2004...
Background: As little information is available on children with non-classic presentations of Pompe d...
Background Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that is usual...
Background: Due partly to physicians' unawareness, many adults with Pompe disease are diagnosed with...
Background: Due partly to physicians' unawareness, many adults with Pompe disease are diagnosed with...
Background: Due partly to physicians' unawareness, many adults with Pompe disease are diagnosed with...
Background: Enzyme replacement therapy (ERT) in adults with Pompe disease, a progressive neuromuscul...
Contains fulltext : 111047.pdf (publisher's version ) (Open Access)ABSTRACT: BACKG...
Pompe disease is a rare lysosomal storage disorder characterized by muscle weakness and wasting. The...
International audienceBackground and ObjectivesPompe disease is a rare neuromuscular disease caused ...
textabstractAbstract. Background: Enzyme replacement therapy (ERT) in adults with Pompe disease, a p...
ABSTRACT: The objective of the present study was to prospectively evaluate relationships linking age...
textabstractPompe disease is a lysosomal storage disorder caused by deficiency of the enzyme acid a...
Background: As little information is available on children with non-classic presentations of Pomp...
BackgroundPompe disease is a lysosomal storage disorder caused by the deficiency of enzyme acid alph...
International audienceBackground and ObjectivesThe French Pompe disease registry was created in 2004...
Background: As little information is available on children with non-classic presentations of Pompe d...
Background Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that is usual...
Background: Due partly to physicians' unawareness, many adults with Pompe disease are diagnosed with...
Background: Due partly to physicians' unawareness, many adults with Pompe disease are diagnosed with...
Background: Due partly to physicians' unawareness, many adults with Pompe disease are diagnosed with...
Background: Enzyme replacement therapy (ERT) in adults with Pompe disease, a progressive neuromuscul...
Contains fulltext : 111047.pdf (publisher's version ) (Open Access)ABSTRACT: BACKG...
Pompe disease is a rare lysosomal storage disorder characterized by muscle weakness and wasting. The...
International audienceBackground and ObjectivesPompe disease is a rare neuromuscular disease caused ...
textabstractAbstract. Background: Enzyme replacement therapy (ERT) in adults with Pompe disease, a p...
ABSTRACT: The objective of the present study was to prospectively evaluate relationships linking age...
textabstractPompe disease is a lysosomal storage disorder caused by deficiency of the enzyme acid a...
Background: As little information is available on children with non-classic presentations of Pomp...
BackgroundPompe disease is a lysosomal storage disorder caused by the deficiency of enzyme acid alph...
International audienceBackground and ObjectivesThe French Pompe disease registry was created in 2004...
Background: As little information is available on children with non-classic presentations of Pompe d...
Background Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that is usual...