Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment - Montagnese, Federica; Barca, E.; Musumeci, O.; Mondello, S.; Migliorato, A.; Ciranni, A.; Rodolico, C.; De Filippi, P.; Danesino, C.; Toscano, A. (Journal of neurology, 2015)
Keywords: Acids; Adult; alpha-Glucosidases - genetics; Analysis of Variance; Biopsy; Cohort Studies; Disease; DNA Mutational Analysis; Enzyme Replacement Therapy - methods; Enzymes; Female; Genotype & phenotype; Glycogen Storage Disease Type II - complications; Glycogen Storage Disease Type II - genetics; Glycogen Storage Disease Type II - therapy; Humans; Magnetic Resonance Imaging; Male; Medicine; Medicine & Public Health; Metabolic disorders; Middle Aged; Muscle, Skeletal - enzymology; Muscle, Skeletal - pathology; Musculoskeletal system; Mutation; Mutation - genetics; Neurology; Neuromuscular diseases; Neuroradiology; Neurosciences; Original Communication; Patients; Phosphatase; Respiration Disorders - etiology; Severity of Illness Index; Ureohydrolases - blood; Young Adult; Italy; Pompe disease; Metabolic myopathy; ERT; Glycogen storage disease type 2