Detecting multiple lysosomal storage diseases by tandem mass spectrometry - A national newborn screening program in Taiwan

Clinica Chimica Acta

Volumn 431, Issue , 2014, Pages 80-86

  Liao, Hsuan Chieh ^a,b   Chiang, Chuan Chi ^b   Niu, Dau Ming ^a,c   Wang, Chung Hsing ^d   Kao, Shu Min ^b   Tsai, Fuu Jen ^d   Huang, Yu Hsiu ^c   Liu, Hao Chuan ^c   Huang, Chun Kai ^c   Gao, He Jin ^c   Yang, Chia Feng ^c   Chan, Min Ju ^b   Lin, Wei De ^d   Chen, Yann Jang ^a,e  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b Chinese Foundation of Health   (Taiwan)

^c TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^d CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^e TAIPEI CITY HOSPITAL   (Taiwan)

Author keywords

Fabry disease; Gaucher disease; Lysosomal storage disease; Newborn screening; Pompe disease; Tandem mass spectrometry

Indexed keywords

DNA;

CLINICAL TRIAL; DNA SEQUENCE; DRIED BLOOD SPOT TESTING; FABRY DISEASE; FEMALE; GAUCHER DISEASE; GENETICS; GLYCOGEN STORAGE DISEASE TYPE II; HUMAN; LYSOSOMAL STORAGE DISEASES; MALE; MULTICENTER STUDY; NEWBORN; NEWBORN SCREENING; PILOT STUDY; QUALITY CONTROL; REPRODUCIBILITY; TAIWAN; TANDEM MASS SPECTROMETRY;

DNA; DRIED BLOOD SPOT TESTING; FABRY DISEASE; FEMALE; GAUCHER DISEASE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT, NEWBORN; LYSOSOMAL STORAGE DISEASES; MALE; NEONATAL SCREENING; PILOT PROJECTS; QUALITY CONTROL; REPRODUCIBILITY OF RESULTS; SEQUENCE ANALYSIS, DNA; TAIWAN; TANDEM MASS SPECTROMETRY;

EID: 84894088711     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2014.01.030     Document Type: Article

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