Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment. [electronic resource]
Producer: 20160108Description: 968-78 p. digitalISSN:- 1432-1459
- 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
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Publication Type: Journal Article
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