Infantile Pompe disease on ERT-Update on clinical presentation, musculoskeletal management, and exercise considerations

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 160 C, Issue 1, 2012, Pages 69-79

  Case, Laura E ^a   Beckemeyer, Alexandra A ^b   Kishnani, Priya S ^c  

^a DUKE UNIVERSITY   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c Medical Genetics ^*  (United States)

Author keywords

Emerging phenotype; Musculoskeletal management; Physical therapy and exercise; Pompe disease on ERT; Residual weakness

Indexed keywords

GLYCOGEN; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE;

ARTICLE; AUTOPHAGOSOME; BREATHING MUSCLE; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; ENZYME REPLACEMENT; EXERCISE; EXTENSOR MUSCLE; GAIT; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; INFANT DISEASE; INFANTILE POMPE DISEASE; KINEMATICS; LATE ONSET POMPE DISEASE; MOTOR PERFORMANCE; MUSCLE WEAKNESS; MUSCULOSKELETAL SYSTEM; ONSET AGE; PATHOPHYSIOLOGY; PATIENT MONITORING; PHENOTYPE; PHYSIOTHERAPY; PRIORITY JOURNAL; SKELETAL MUSCLE; SURVIVAL; TIBIALIS ANTERIOR MUSCLE; TREATMENT RESPONSE;

AGE OF ONSET; ALPHA-GLUCOSIDASES; CHILD; CHILD, PRESCHOOL; ENZYME REPLACEMENT THERAPY; EXERCISE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MOTOR ACTIVITY; MUSCLE, SKELETAL;

EID: 84856223173     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31321     Document Type: Article

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