Infantile Pompe disease: Clinical and genetic characteristics with an experience of enzyme replacement therapy

Journal of Child Neurology

Volumn 27, Issue 3, 2012, Pages 319-324

  Cho, Anna ^a   Kim, Su Jin ^b   Lim, Byung Chan ^a   Hwang, Hee ^a   Park, June Dong ^a   Kim, Gi Beom ^a   Jin, Dong Kyu ^b   Lee, Jeehun ^b   Ki, Chang Seok ^b   Kim, Ki Joong ^a   Hwang, Yong Seung ^a   Chae, Jong Hee ^a  

^a Seoul National University Children's Hospital   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

acid glucosidase gene; cardiomyopathy; enzyme replacement therapy; genetic analysis; glycogen storage disease type II; lysosomal storage; Pompe disease

Indexed keywords

RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE;

ABSENCE OF SIDE EFFECTS; ARTICLE; CHILD; CLINICAL ARTICLE; ENZYME REPLACEMENT; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 2; HEART FUNCTION; HUMAN; INFANT; KOREA; MALE; MUSCLE STRENGTH; OUTCOME ASSESSMENT; PRESCHOOL CHILD; PRIORITY JOURNAL; THERAPY EFFECT; TREATMENT DURATION;

ALPHA-GLUCOSIDASES; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ECHOCARDIOGRAPHY, THREE-DIMENSIONAL; ENZYME REPLACEMENT THERAPY; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT; LONGITUDINAL STUDIES; MALE; MUTATION; RADIOGRAPHY; RADIOGRAPHY, THORACIC; RETROSPECTIVE STUDIES; TREATMENT OUTCOME;

EID: 84863353942     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073811420295     Document Type: Article

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