Montagnese, Federica

Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment. [electronic resource] - Journal of neurology 2015 - 968-78 p. digital

Publication Type: Journal Article

1432-1459

10.1007/s00415-015-7664-0 doi


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