Late onset Pompe disease revealed by newborn screening

American Journal of Medical Genetics, Part A

Volumn 155, Issue 5, 2011, Pages

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Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL FEATURE; ENZYME REPLACEMENT; FALSE POSITIVE RESULT; GENE MUTATION; GENE SEQUENCE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; MEDICAL RESEARCH; MUSCLE BIOPSY; NEWBORN SCREENING; NOTE; ONSET AGE; PRIORITY JOURNAL; PROGNOSIS; TAIWAN; THERAPY DELAY; UNITED STATES;

GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT; INFANT, NEWBORN; NEONATAL SCREENING;

EID: 79954993715     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34061     Document Type: Note

References (2)

1. Chien Y, Lee NC, Huang HJ, Thurberg BL, Tsai FJ, Hwu WL. 2011. Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening. J Pediatr. [Epub ahead of print.].
2. Chien YH, Chiang SC, Zhang XK, Keutzer J, Lee NC, Huang AC, Chen CA, Wu MH, Huang PH, Tsai FJ, Chen YT, Hwu WL. 2008. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics 22:e39-45.