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