Article
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
Journal of neurology - 1 Jan 2015
Montagnese Federica, Barca E, Musumeci O, Mondello S, Migliorato A, Ciranni A, Rodolico C, De Filippi P, Danesino C, Toscano A
Abstract excerpt
Pompe disease is a rare metabolic disorder, due to mutations in the gene encoding acid alpha-glucosidase (GAA), of which infantile and late-onset forms may occur. Aim of the work was to analyze clinical and laboratory data of a cohort of late-onset Pompe disease (LOPD) patients, collected during the last 15 years and to point out unusual phenotypic/genotypic features as well as enzyme replacement therapy (ERT)...
Topics
- Adult
- Analysis of Variance
- Cohort Studies
- DNA Mutational Analysis
- Enzyme Replacement Therapy
- Female
- Glycogen Storage Disease Type II
- Humans
- Magnetic Resonance Imaging
- Male
- Middle Aged
- Muscle, Skeletal
- Mutation