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

Montagnese, Federica; Barca, E; Musumeci, O; Mondello, S; Migliorato, A; Ciranni, A; Rodolico, C; De Filippi, P; Danesino, C; Toscano, A.

Affiliation

Montagnese F; Department of Neurosciences, University of Messina, Messina, Italy, fe.montagnese@gmail.com.

J Neurol ; 262(4): 968-78, 2015.

Article in En | MEDLINE | ID: mdl-25673129

Subject(s)

Enzyme Replacement Therapy/methods; Glycogen Storage Disease Type II/genetics; Glycogen Storage Disease Type II/therapy; Mutation/genetics; alpha-Glucosidases/genetics; Adult; Analysis of Variance; Cohort Studies; DNA Mutational Analysis; Female; Glycogen Storage Disease Type II/complications; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Muscle, Skeletal/enzymology; Muscle, Skeletal/pathology; Respiration Disorders/etiology; Severity of Illness Index; Ureohydrolases/blood; Young Adult

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease Type II / Alpha-Glucosidases / Enzyme Replacement Therapy / Mutation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: J Neurol Year: 2015 Document type: Article

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