Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening

Journal of Pediatrics

Volumn 158, Issue 6, 2011, Pages

  Chien, Yin Hsiu ^a   Lee, Ni Chung ^a   Huang, Hsiang Ju ^a   Thurberg, Beth L ^d   Tsai, Fuu Jen ^b   Hwu, Wuh Liang ^a,c  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b School of Chinese Medicine   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d GENZYME CORPORATION   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; GLUCAN 1,4 ALPHA GLUCOSIDASE; GLYCOGEN; LIPID;

ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; EARLY DIAGNOSIS; EARLY INTERVENTION; ENZYME ACTIVITY; FEMALE; FOLLOW UP; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; LIPID STORAGE; MALE; MOTOR DEVELOPMENT; MOTOR PERFORMANCE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NEWBORN SCREENING; ONSET AGE; PATIENT MONITORING; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN FIBROBLAST;

EID: 79955035276     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2010.11.053     Document Type: Article

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