TY  - GEN
AU  - Musumeci,O
AU  - la Marca,G
AU  - Spada,M
AU  - Mondello,S
AU  - Danesino,C
AU  - Comi,G P
AU  - Pegoraro,E
AU  - Antonini,G
AU  - Marrosu,G
AU  - Liguori,R
AU  - Morandi,L
AU  - Moggio,M
AU  - Massa,R
AU  - Ravaglia,S
AU  - Di Muzio,A
AU  - Filosto,M
AU  - Tonin,P
AU  - Di Iorio,G
AU  - Servidei,S
AU  - Siciliano,G
AU  - Angelini,C
AU  - Mongini,T
AU  - Toscano,A
TI  - LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population
SN  - 1468-330X
PY  - 2016///0418
KW  - Adult
KW  - Age of Onset
KW  - Creatine Kinase
KW  - blood
KW  - Early Diagnosis
KW  - Female
KW  - Fluorometry
KW  - Glycogen Storage Disease Type II
KW  - diagnosis
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Muscle Weakness
KW  - etiology
KW  - Muscle, Skeletal
KW  - pathology
KW  - Pathology, Molecular
KW  - methods
KW  - Reproducibility of Results
KW  - Risk
KW  - Tandem Mass Spectrometry
KW  - alpha-Glucosidases
KW  - genetics
N1  - Publication Type: Journal Article; Multicenter Study; Observational Study
UR  - https://doi.org/10.1136/jnnp-2014-310164
ER  -