LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.
Musumeci, O
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. [electronic resource] - Journal of neurology, neurosurgery, and psychiatry Jan 2016 - 5-11 p. digital
Publication Type: Journal Article; Multicenter Study; Observational Study
1468-330X
10.1136/jnnp-2014-310164 doi
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
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. [electronic resource] - Journal of neurology, neurosurgery, and psychiatry Jan 2016 - 5-11 p. digital
Publication Type: Journal Article; Multicenter Study; Observational Study
1468-330X
10.1136/jnnp-2014-310164 doi
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