... et al. Progress in enzyme replacement therapy in glycogen storage disease type II. Therapeutic Advances in Neurological Disorders. 2009; 2 (3): ... therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study. J Inherit ...

... 2 CNBP AD +++ – ++ No joint contractures Myopathy w/maltase acid deficiency GAA AR +++ – ++ (rare cases) No joint contractures Peculiar ... these phenotypes in OMIM. Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...

... facial weakness Late-onset Pompe disease (late-onset glycogen storage disease type II) GAA AR Proximal muscle weakness Respiratory insufficiency Early ...

... II (CPT II) deficiency AR GAA Pompe disease (Glycogen storage disease type II [GSD II]) AR PYGM Glycogen storage disease type ... Neurology [ Narayanaswami et al 2014 ]. Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...