Pompe disease, the must-not-miss diagnosis: A report of 3 patients

Muscle and Nerve

Volumn 47, Issue 4, 2013, Pages 594-600

  Dubrovsky, Alberto ^a   Corderi, Jose ^a   Karasarides, Theodora ^b   Taratuto, Ana Lia ^c  

^a HOSPITAL UNIVERSITARIO FUNDACIÓN FAVALORO   (Argentina)

^b GENZYME CORPORATION   (United States)

^c FLENI   (Argentina)

Author keywords

Acid alpha glucosidase (GAA); Enzyme replacement therapy; Late onset Pompe disease; Proximal muscle weakness; Respiratory insufficiency

Indexed keywords

GLYCOGEN;

ABDOMINAL WALL MUSCULATURE; ADULT; AGED; ARTICLE; CASE REPORT; DELTOID MUSCLE; DISEASE COURSE; DYSPNEA; ELECTROMYOGRAPHY; ENZYME REPLACEMENT; EXERCISE; FATIGUE; FEMALE; GAIT DISORDER; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HYPERCAPNIA; LIMB WEAKNESS; LORDOSIS; LOW BACK PAIN; LUMBAR HYPERLORDOSIS; LUNG FUNCTION; LUNG FUNCTION TEST; MALE; MEDICAL RESEARCH COUNCIL SCALE; MUSCLE BIOPSY; MUSCLE STRENGTH; PHYSICAL ACTIVITY; PRIORITY JOURNAL; PTOSIS; RATING SCALE;

ADULT; AGED; ALPHA-GLUCOSIDASES; DELAYED DIAGNOSIS; DIAGNOSIS, DIFFERENTIAL; ENZYME REPLACEMENT THERAPY; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MALE; MIDDLE AGED; MUSCLE WEAKNESS; NEUROMUSCULAR DISEASES; RESPIRATORY INSUFFICIENCY;

EID: 84875618299     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.23643     Document Type: Article

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