Diagnostic challenges for Pompe disease: An under-recognized cause of floppy baby syndrome

Genetics in Medicine

Volumn 8, Issue 5, 2006, Pages 289-296

  Howell, R Rodney ^a   Byrne, Barry ^b   Darras, Basil T ^c   Kishnani, Priya ^d   Nicolino, Marc ^e   Van Der Ploeg, Ans ^f  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF FLORIDA   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d DUKE UNIVERSITY MEDICAL CENTER   (United States)

^e HÔPITAL DEBROUSSE   (France)

^f ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

GAA deficiency; Hypotonia; Lysosomal diseases; Muscular abnormalities; Pompe disease

Indexed keywords

ANTIBIOTIC AGENT; GLUCAN 1,4 ALPHA GLUCOSIDASE; LYSOSOME ENZYME; PYRIDOSTIGMINE; RECOMBINANT ENZYME; RECOMBINANT HUMAN GLUCAN 1,4 ALPHA GLUCOSIDASE; UNCLASSIFIED DRUG;

CARDIOMEGALY; CENTRAL NERVOUS SYSTEM; CLINICAL FEATURE; CONGENITAL HEART DISEASE; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; ENZYME REPLACEMENT; GENETIC COUNSELING; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HYPOTHYROIDISM; INFANTILE HYPOTONIA; MALABSORPTION; MALNUTRITION; MUSCLE HYPOTONIA; MYASTHENIA GRAVIS; PATHOPHYSIOLOGY; PROGNOSIS; RESPIRATORY TRACT INFECTION; REVIEW; SEPSIS; THORAX RADIOGRAPHY; ARTICLE; EARLY DIAGNOSIS; INFANT; NEWBORN;

DIAGNOSIS, DIFFERENTIAL; EARLY DIAGNOSIS; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT; INFANT, NEWBORN; MUSCLE HYPOTONIA;

EID: 33745626499     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.gim.0000204462.42910.b8     Document Type: Review

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