Musumeci, O <br/><br/>
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 
<br/><br/> Publication Type: Journal Article; Multicenter Study; Observational Study 
<br/><br/><label>ISSN: </label>1468-330X 
<br/><br/><label>Standard No.: </label>10.1136/jnnp-2014-310164  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Age of Onset<br/>Creatine Kinase--blood<br/>Early Diagnosis<br/>Female<br/>Fluorometry<br/>Glycogen Storage Disease Type II--diagnosis<br/>Humans<br/>Male<br/>Middle Aged<br/>Muscle Weakness--etiology<br/>Muscle, Skeletal--pathology<br/>Pathology, Molecular--methods<br/>Reproducibility of Results<br/>Risk<br/>Tandem Mass Spectrometry<br/>alpha-Glucosidases--genetics