Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients

Molecular Genetics and Metabolism

Volumn 101, Issue 2-3, 2010, Pages 130-133

  Bernstein, Donna L ^a   Bialer, Martin G ^a   Mehta, Lakshmi ^b   Desnick, Robert J ^b  

^a Northwell Health   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Acid glucosidase; Acid maltase deficiency; Gastrointestinal manifestations; Glycogen accumulation; Glycogenosis II; Lysosomal storage diseases; Pompe disease

Indexed keywords

ALPHA GLUCOSIDASE;

ABDOMINAL PAIN; ADOLESCENT; ADULT; ARTICLE; BLOATING; CASE REPORT; CHRONIC DIARRHEA; DIARRHEA; ENZYME ACTIVITY; ENZYME REPLACEMENT; FEMALE; GASTROINTESTINAL TRACT FUNCTION; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; INCONTINENCE; LYSOSOME STORAGE DISEASE; MALE; MUSCLE WEAKNESS; PRIORITY JOURNAL; RESPIRATORY FAILURE; VOMITING; WEIGHT GAIN;

ADOLESCENT; ADULT; ALPHA-GLUCOSIDASES; CHILD; CHILD, PRESCHOOL; ENZYME REPLACEMENT THERAPY; FEMALE; GASTROINTESTINAL DISEASES; GASTROINTESTINAL TRACT; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MALE; MIDDLE AGED;

EID: 77957239453     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.06.003     Document Type: Article

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