LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. [electronic resource]
Producer: 20160418Description: 5-11 p. digitalISSN:- 1468-330X
- Adult
- Age of Onset
- Creatine Kinase -- blood
- Early Diagnosis
- Female
- Fluorometry
- Glycogen Storage Disease Type II -- diagnosis
- Humans
- Male
- Middle Aged
- Muscle Weakness -- etiology
- Muscle, Skeletal -- pathology
- Pathology, Molecular -- methods
- Reproducibility of Results
- Risk
- Tandem Mass Spectrometry
- alpha-Glucosidases -- genetics
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Publication Type: Journal Article; Multicenter Study; Observational Study
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