The emerging phenotype of late-onset Pompe disease: A systematic literature review

Molecular Genetics and Metabolism

Volumn 120, Issue 3, 2017, Pages 163-172

  Chan, Justin ^a   Desai, Ankit K ^a   Kazi, Zoheb B ^a   Corey, Kaitlyn ^a   Austin, Stephanie ^a   Hobson Webb, Lisa D ^a   Case, Laura E ^b   Jones, Harrison N ^b   Kishnani, Priya S ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Glycogen storage disease type II; Late onset Pompe disease; Multisystem disease; Natural history; Pompe disease

Indexed keywords

RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE; ALPHA GLUCOSIDASE; GAA PROTEIN, HUMAN;

BREATHING MUSCLE; BULBAR PARALYSIS; ENZYME REPLACEMENT; FATIGUE; FRACTURE; GASTROINTESTINAL SYMPTOM; GLYCOGEN STORAGE DISEASE TYPE 2; HEARING IMPAIRMENT; HEART ARRHYTHMIA; HEART VENTRICLE HYPERTROPHY; HUMAN; LATE ONSET DISORDER; LEG DISEASE; MEDLINE; MENTAL DISEASE; MUSCLE DISEASE; NEUROPATHY; OSTEOPOROSIS; PAIN; PARASPINAL MUSCLE; PRIORITY JOURNAL; PTOSIS; REVIEW; SCOLIOSIS; SPINE DISEASE; SYSTEMATIC REVIEW; UROGENITAL TRACT DISEASE; VASCULAR DISEASE; ADULT; DRUG EFFECTS; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; MALE; ONSET AGE; PATHOLOGY; PHENOTYPE; PROCEDURES; TREATMENT OUTCOME;

ADULT; AGE OF ONSET; ALPHA-GLUCOSIDASES; ENZYME REPLACEMENT THERAPY; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MALE; PHENOTYPE; RESPIRATORY MUSCLES; TREATMENT OUTCOME;

EID: 85011593484     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2016.12.004     Document Type: Review

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