Phenotype variations in early onset pompe disease: Diagnosis and treatment results with myozyme®

Advances in Experimental Medicine and Biology

Volumn 652, Issue , 2009, Pages 39-46

  Pascual Pascual, Samuel Ignacio ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

Acid a glucosidase; Classic infantile Pompe disease; Enzymatic replacement therapy; ERT; GAA; Glycogen storage disease; GSD II; Late onset Pompe disease; Myozyme ; Pompe disease; rhGAA

Indexed keywords

RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE; ALPHA GLUCOSIDASE; GAA PROTEIN, HUMAN;

CLINICAL ASSESSMENT; CONFERENCE PAPER; COUGHING; DISEASE SEVERITY; DRUG HYPERSENSITIVITY; ENZYME REPLACEMENT; FEVER; GASTROSTOMY; GENE LOCATION; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; INCIDENCE; MALAISE; MUSCLE BIOPSY; NASOGASTRIC TUBE; NONHUMAN; ONSET AGE; OUTCOME ASSESSMENT; PHENOTYPIC VARIATION; PHYSIOTHERAPY; PRIORITY JOURNAL; RASH; SYMPTOMATOLOGY; TACHYCARDIA; GENETICS; PHENOTYPE; REVIEW;

AGE OF ONSET; ALPHA-GLUCOSIDASES; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INCIDENCE; PHENOTYPE;

EID: 77950361615     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-90-481-2813-6_4     Document Type: Conference Paper

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