Timing of diagnosis of patients with pompe disease: Data from the pompe registry

American Journal of Medical Genetics, Part A

Volumn 161, Issue 10, 2013, Pages 2431-2443

  Kishnani, Priya S ^a   Amartino, Hernán M ^b   Lindberg, Christopher ^c   Miller, Timothy M ^d   Wilson, Amanda ^d   Keutzer, Joan ^d  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSIDAD AUSTRAL   (Argentina)

^c SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^d GENZYME CORPORATION   (United States)

Author keywords

Blood based assays; Diagnosis; Diagnostic delay; Lysosomal storage disorder; Pompe disease; Registry; Symptoms

Indexed keywords

ARTICLE; BODY MASS; CARDIOMYOPATHY; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DISEASE ASSOCIATION; DISEASE REGISTRY; GENDER; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; MAJOR CLINICAL STUDY; MUSCULOSKELETAL DISEASE; ONSET AGE; PREDICTION; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE; SYMPTOM; TIMING OF DIAGNOSIS;

BLOOD-BASED ASSAYS; DIAGNOSIS; DIAGNOSTIC DELAY; LYSOSOMAL STORAGE DISORDER; POMPE DISEASE; REGISTRY; SYMPTOMS;

ADOLESCENT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; DELAYED DIAGNOSIS; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT; MALE; REGISTRIES; TIME FACTORS;

EID: 84884988101     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36110     Document Type: Article

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