Challenges in diagnosis and treatment of late-onset Pompe disease

Current Opinion in Neurology

Volumn 24, Issue 5, 2011, Pages 443-448

  Desnuelle, Claude ^a   Salviati, Leonardo ^b  

^a UNIVERSITY HOSPITAL OF NICE   (France)

^b UNIVERSITY OF PADOVA   (Italy)

Author keywords

Autophagy; enzyme replacement therapy; glycogen storage disease type II; Golgitrafficking; lysosomal storage disease; myopathy; Pompe disease

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE; PARVOVIRUS VECTOR; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE;

BLOOD SAMPLING; CLINICAL FEATURE; DIAGNOSTIC TEST; DIET THERAPY; DOT BLOOD SAMPLE TESTING; DRUG MECHANISM; ENZYME REPLACEMENT; GENE THERAPY; GENE VECTOR; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; LATE ONSET POMPE DISEASE; LYSOSOME; LYSOSOME STORAGE DISEASE; MEDICAL RESEARCH; MYOPATHY; ONSET AGE; PATHOGENESIS; PHYSIOTHERAPY; REVIEW;

AGE OF ONSET; ALPHA-GLUCOSIDASES; ANIMALS; DISEASE MODELS, ANIMAL; ENZYME REPLACEMENT THERAPY; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS;

EID: 80052467985     PISSN: 13507540     EISSN: 14736551     Source Type: Journal    
DOI: 10.1097/WCO.0b013e32834a1e00     Document Type: Review

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