Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: A case study

Molecular Genetics and Metabolism

Volumn 95, Issue 4, 2008, Pages 233-235

  Case, Laura E ^a   Koeberl, Dwight D ^a   Young, Sarah P ^a   Bali, Deeksha ^a   DeArmey, Stephanie M ^a   Mackey, Joanne ^a   Kishnani, Priya S ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Enzyme replacement therapy; Glycogen storage disease type II; Late onset Pompe disease; Myozyme

Indexed keywords

RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE;

ADULT; ARTICLE; CASE REPORT; CASE STUDY; CLINICAL ASSESSMENT; CLINICAL FEATURE; DISEASE SEVERITY; ENZYME REPLACEMENT; FEMALE; GENE SEQUENCE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HUMAN TISSUE; LONG TERM CARE; LUNG FUNCTION; MORBIDITY; NASOGASTRIC TUBE; OXYGEN SATURATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FIBROBLAST; TREATMENT DURATION; TREATMENT OUTCOME;

ALPHA-GLUCOSIDASES; BIOLOGICAL THERAPY; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MIDDLE AGED; MOTOR ACTIVITY; TREATMENT OUTCOME;

EID: 55949130607     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.09.001     Document Type: Article

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