Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment

Journal of Neurology

Volumn 262, Issue 4, 2015, Pages 968-978

  Montagnese, Federica ^a   Barca, E ^a   Musumeci, O ^a   Mondello, S ^a   Migliorato, A ^a   Ciranni, A ^a   Rodolico, C ^a   De Filippi, P ^b   Danesino, C ^b,c   Toscano, A ^a  

^a UNIVERSITY OF MESSINA   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

ERT; Glycogen storage disease type 2; Metabolic myopathy; Pompe disease

Indexed keywords

ALPHA GLUCOSIDASE; CREATINASE; HYDROLASE;

ADULT; ANALYSIS OF VARIANCE; BLOOD; COHORT ANALYSIS; COMPLICATION; ENZYME REPLACEMENT; ENZYMOLOGY; FEMALE; GENETICS; GLYCOGEN STORAGE DISEASE TYPE II; HUMAN; MALE; MIDDLE AGED; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROCEDURES; RESPIRATION DISORDERS; SEVERITY OF ILLNESS INDEX; SKELETAL MUSCLE; YOUNG ADULT;

ADULT; ALPHA-GLUCOSIDASES; ANALYSIS OF VARIANCE; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; ENZYME REPLACEMENT THERAPY; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; RESPIRATION DISORDERS; SEVERITY OF ILLNESS INDEX; UREOHYDROLASES; YOUNG ADULT;

EID: 84939992318     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-015-7664-0     Document Type: Article

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