Pompe disease: Design, methodology, and early findings from the Pompe Registry

Molecular Genetics and Metabolism

Volumn 103, Issue 1, 2011, Pages 1-11

  Byrne, Barry J ^a   Kishnani, Priya S ^b   Case, Laura E ^c   Merlini, Luciano ^d   Müller Felber, Wolfgang ^e   Prasad, Suyash ^f,g   der Ploeg, Ans van ^h  

^a UNIVERSITY OF FLORIDA   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^e LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^f GENZYME CORPORATION   (United States)

^g CROMWELL HOSPITAL   (United Kingdom)

^h SOPHIA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

Acid maltase deficiency; Cardiomyopathy; Glycogen storage disease type II; Lysosomal acid glucosidase; Pompe disease; Registry

Indexed keywords

ARTICLE; CARDIOMYOPATHY; CHILD; DEATH; DISEASE REGISTRY; ENZYME REPLACEMENT; FEMALE; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; LUNG FUNCTION; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

AGE OF ONSET; CHILD; CHILD, PRESCHOOL; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT; LUNG; MALE; MUTATION; REGISTRIES;

EID: 79955141793     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.02.004     Document Type: Article

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