To determine the rate of disease progression in patients with late-onset Pompe disease, we collected longitudinal data on pulmonary function and skeletal muscle strength in 16 patients whose symptoms had started in childhood or adulthood. The mean duration of follow-up was 16 years (range 4-29 years). During the follow-up period, eight patients (50%) became wheelchair bound and three (19%) became ventilator dependent. At a group level, pulmonary function deteriorated by 1.6% per year, and proximal muscle weakness progressed gradually. At the individual level, however, the rate and extent of progression varied highly between patients. In two thirds of patients, pulmonary function and muscle strength declined simultaneously and to the same ex...
SummaryPompe disease is a single disease continuum that includes variable neuromuscular symptoms and...
Objective To characterize the natural progression of infantile-onset Pompe disease. Study design Ret...
textabstractPompe disease is a rare lysosomal storage disorder characterized by muscle weakness and ...
AbstractTo identify determinants of respiratory disease progression in late-onset Pompe disease (LOP...
Background: Due partly to physicians' unawareness, many adults with Pompe disease are diagnosed with...
textabstractBackground: Due partly to physicians' unawareness, many adults with Pompe disease are di...
ABSTRACT: The objective of the present study was to prospectively evaluate relationships linking age...
ABSTRACT Objective: To describe respiratory function in a series of patients with late-onset Pompe...
Objective: To examine respiratory muscle function among late-onset Pompe disease (LOPD) patients in ...
Late-onset Pompe disease (LOPD) is characterized by progressive muscle weakness, respiratory muscle ...
Late-onset Pompe disease(LOPD) is characterized by declining proximal muscle strength and respirator...
Background: Due partly to physicians' unawareness, many adults with Pompe disease are diagnosed with...
Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myop...
International audienceBackground and ObjectivesThe French Pompe disease registry was created in 2004...
Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myop...
SummaryPompe disease is a single disease continuum that includes variable neuromuscular symptoms and...
Objective To characterize the natural progression of infantile-onset Pompe disease. Study design Ret...
textabstractPompe disease is a rare lysosomal storage disorder characterized by muscle weakness and ...
AbstractTo identify determinants of respiratory disease progression in late-onset Pompe disease (LOP...
Background: Due partly to physicians' unawareness, many adults with Pompe disease are diagnosed with...
textabstractBackground: Due partly to physicians' unawareness, many adults with Pompe disease are di...
ABSTRACT: The objective of the present study was to prospectively evaluate relationships linking age...
ABSTRACT Objective: To describe respiratory function in a series of patients with late-onset Pompe...
Objective: To examine respiratory muscle function among late-onset Pompe disease (LOPD) patients in ...
Late-onset Pompe disease (LOPD) is characterized by progressive muscle weakness, respiratory muscle ...
Late-onset Pompe disease(LOPD) is characterized by declining proximal muscle strength and respirator...
Background: Due partly to physicians' unawareness, many adults with Pompe disease are diagnosed with...
Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myop...
International audienceBackground and ObjectivesThe French Pompe disease registry was created in 2004...
Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myop...
SummaryPompe disease is a single disease continuum that includes variable neuromuscular symptoms and...
Objective To characterize the natural progression of infantile-onset Pompe disease. Study design Ret...
textabstractPompe disease is a rare lysosomal storage disorder characterized by muscle weakness and ...