Low anal sphincter tone in infantile-onset Pompe Disease: An emerging clinical issue in enzyme replacement therapy patients requiring special attention

Molecular Genetics and Metabolism

Volumn 108, Issue 2, 2013, Pages 142-144

  Tan, Queenie K G ^a   Cheah, Sue Mei ^a,b   Dearmey, Stephanie M ^a   Kishnani, Priya S ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b DUKE NUS MEDICAL SCHOOL   (Singapore)

Author keywords

Acid alpha glucosidase; Anal sphincter; Enzyme replacement therapy; Glycogen storage disease type II; Pompe Disease

Indexed keywords

RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE;

ANUS SPHINCTER DISORDER; ARTICLE; CASE REPORT; CHILD; ENZYME REPLACEMENT; FEMALE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; INFANTILE ONSET POMPE DISEASE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RECTUM PROLAPSE;

ANAL CANAL; CHILD, PRESCHOOL; ENZYME REPLACEMENT THERAPY; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT; MUSCLE HYPOTONIA;

EID: 84872892474     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.11.013     Document Type: Article

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