Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients

Molecular Genetics and Metabolism

Volumn 106, Issue 3, 2012, Pages 287-300

  Palermo, A T ^a   Palmer, R E ^a   So, K S ^a   Oba Shinjo, S M ^b   Zhang, M ^a   Richards, B ^a   Madhiwalla, S T ^a   Finn, P F ^a   Hasegawa, A ^b   Ciociola, K M ^a   Pescatori, M ^c   McVie Wylie, A J ^a   Mattaliano, R J ^a   Madden, S L ^a   Marie, S K N ^b   Klinger, K W ^a   Pomponio, R J ^a  

^a GENZYME CORPORATION   (United States)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Acid alpha glucosidase; Enzyme replacement therapy; Expression profiling; GAA; Lysosomal storage disease; Pompe disease

Indexed keywords

RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE;

ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENETIC TRANSCRIPTION; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; INFANT; INFLAMMATION; INFLAMMATORY INFILTRATE; MALE; MUSCLE REGENERATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SIGNAL TRANSDUCTION; TREATMENT RESPONSE;

AGE OF ONSET; ALPHA-GLUCOSIDASES; CHILD; CHILD, PRESCHOOL; FEMALE; GENE EXPRESSION; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUSCLE, SKELETAL; PHENOTYPE; TRANSCRIPTION, GENETIC;

EID: 84862578501     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.05.004     Document Type: Article

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