The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management

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

Volumn 160 C, Issue 1, 2012, Pages 1-7

  Kishnani, Priya S ^a   Beckemeyer, Alexandra A ^a   Mendelsohn, Nancy J ^b  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b CHILDREN S HOSPITALS AND CLINICS OF MINNESOTA   (United States)

Author keywords

Acid glucosidase deficiency; Acid maltase deficiency; Glycogen storage disease type II; Glycogenosis; Lysosomal storage disorder; Pompe disease

Indexed keywords

BIOLOGICAL MARKER; GLUCOSE; GLYCOGEN; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE; TETRASACCHARIDE;

ARTICLE; AUTOPHAGY; CLINICAL FEATURE; COGNITION; DISEASE COURSE; DISEASE SEVERITY; DRUG EFFICACY; ENZYME REPLACEMENT; FATALITY; FOLLOW UP; GENE MUTATION; GENOTYPE; GLUCOSE URINE LEVEL; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; IMMUNITY; IMMUNOMODULATION; INFANT DISEASE; INFANTILE POMPE DISEASE; LATE ONSET POMPE DISEASE; MITOCHONDRION; MORBIDITY; MORTALITY; MUSCLE BIOPSY; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; ONSET AGE; OUTCOME ASSESSMENT; PATHOPHYSIOLOGY; PATIENT MONITORING; PHENOTYPE; PHYSIOTHERAPY; PRIORITY JOURNAL; TREATMENT RESPONSE;

ALPHA-GLUCOSIDASES; AUTOPHAGY; BIOLOGICAL MARKERS; CENTRAL NERVOUS SYSTEM; DISEASE PROGRESSION; ENZYME REPLACEMENT THERAPY; GLYCOGEN; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; TREATMENT OUTCOME;

EID: 84856227172     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31324     Document Type: Article

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