To describe muscle involvement on whole-body MRI scans in adult patients at different
stages of late-onset Pompe disease. Twenty patients aged 37 to 75 were examined. Five …

Late-onset Pompe disease is characterized by progressive weakness involving proximal
limb and respiratory muscles. Recently, treatment with enzyme replacement therapy (ERT) …

Introduction Previous examination of whole‐body muscle involvement in Pompe disease
has been limited to physical examination and/or qualitative magnetic resonance imaging …

Abstract Background Late‐onset Pompe disease (LOPD) is a genetic disorder characterized
by progressive degeneration of the skeletal muscles produced by a deficiency of the enzyme …

Objectives Enzyme replacement therapy has shown to be effective for childhood/adult onset
Pompe disease (AOPD). The discovery of biomarkers useful for monitoring disease …

To describe the clinical and neurophysiological spectrum and prognosis in a large cohort of
biochemically and genetically proven late onset Pompe patients. Thirty-eight diagnosed with …

Late onset Pompe disease (LOPD) is a slow, progressive disorder characterized by skeletal
and respiratory muscle weakness. Enzyme replacement therapy (ERT) slows down the …

The objective of this 12‐month study was to describe the clinical features of late‐onset
Pompe disease and identify appropriate outcome measures for use in clinical trials …

Respiratory insufficiency commonly develops in patients with Late Onset Pompe Disease
(LOPD). It is conceivable that a timely starting of enzyme replacement therapy could avoid …

Pompe disease (GSD II) is an autosomal recessive disorder caused by deficiency of the
lysosomal enzyme acid-a-glucosidase (GAA; EC 3.2. 1.20), leading to generalized …