Sibling phenotype concordance in classical infantile pompe disease

American Journal of Medical Genetics, Part A

Volumn 143, Issue 21, 2007, Pages 2493-2501

  Smith, Wendy E ^a,e   Sullivan Saarela, Jennifer A ^b   Li, Jennifer S ^b   Cox, Gerald F ^c,d   Corzo, Deyanira ^c,d   Chen, Yuan Tsong ^b   Kishnani, Priya S ^b  

^a Barbara Bush Children's Hospital   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d GENZYME CORPORATION   (United States)

^e Maine Pediatric Specialty Group   (United States)

Author keywords

Concordance; Infants; Phenotype; Pompe disease; Siblings

Indexed keywords

CARDIOMEGALY; CLINICAL ASSESSMENT; CLINICAL FEATURE; CORRELATION ANALYSIS; DISEASE ACTIVITY; DISEASE COURSE; GENETIC COUNSELING; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; INFANCY; LIFESPAN; MUSCLE HYPOTONIA; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SIBLING;

GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT; PHENOTYPE; SIBLINGS;

EID: 35848955912     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31936     Document Type: Review

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