Pompe disease in infants: Improving the prognosis by newborn screening and early treatment

Pediatrics

Volumn 124, Issue 6, 2009, Pages

  Chien, Yin Hsiu ^a   Lee, Ni Chung ^a   Thurberg, Beth L ^b   Chiang, Shu Chuan ^a   Zhang, Xiaokui Kate ^b   Keutzer, Joan ^b   Huang, Ai Chu ^a   Wu, Mei Hwan ^a   Huang, Pei Hsin ^a   Tsai, Fuu Jen ^c   Chen, Yuan Tsong ^d   Hwu, Wuh Liang ^a,c  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b GENZYME CORPORATION   (United States)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d INSTITUTE OF BIOMEDICAL SCIENCES   (Taiwan)

Author keywords

Inborn errors of metabolism; Neuromuscular disorders; Newborn screening; Outcome; Treatment

Indexed keywords

RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE;

ARTICLE; BRONCHIOLITIS; CONTROLLED STUDY; DRUG ERUPTION; EARLY DIAGNOSIS; ENZYME REPLACEMENT; FEMALE; GASTROENTERITIS; GLYCOGEN STORAGE DISEASE TYPE 2; HEART SIZE; HUMAN; HUMAN TISSUE; INFANT; INJECTION SITE REACTION; MAJOR CLINICAL STUDY; MALE; MOTOR DEVELOPMENT; MUSCLE WEAKNESS; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; PROGNOSIS; SURVIVAL RATE; TREATMENT RESPONSE;

ALPHA-GLUCOSIDASES; CARDIOMYOPATHIES; COMBINED MODALITY THERAPY; DISEASE PROGRESSION; FOLLOW-UP STUDIES; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT, NEWBORN; INFUSIONS, INTRAVENOUS; NEONATAL SCREENING; PARENTERAL NUTRITION, TOTAL; PHYSICAL THERAPY MODALITIES; RESPIRATION, ARTIFICIAL; SURVIVAL RATE; TAIWAN;

EID: 71949101824     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2008-3667     Document Type: Article

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