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

Interest in lysosomal storage diseases in newborn screening programs has increased in recent years. Two techniques, fluorescence (4-MU) and tandem mass spectrometry (MS/MS) methods are frequently used. We report a pilot study of large scale newborn screening for Fabry, Pompe, Gaucher, and MPS I dise...

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Veröffentlicht in:	Clinica chimica acta 2014-04, Vol.431, p.80-86
Hauptverfasser:	Liao, Hsuan-Chieh, Chiang, Chuan-Chi, Niu, Dau-Ming, Wang, Chung-Hsing, Kao, Shu-Min, Tsai, Fuu-Jen, Huang, Yu-Hsiu, Liu, Hao-Chuan, Huang, Chun-Kai, Gao, He-Jin, Yang, Chia-Feng, Chan, Min-Ju, Lin, Wei-De, Chen, Yann-Jang
Format:	Artikel
Sprache:	eng
Schlagworte:	DNA - genetics Dried Blood Spot Testing Fabry disease Fabry Disease - diagnosis Fabry Disease - genetics Female Gaucher disease Gaucher Disease - diagnosis Gaucher Disease - genetics Glycogen Storage Disease Type II - diagnosis Glycogen Storage Disease Type II - genetics Humans Infant, Newborn Lysosomal storage disease Lysosomal Storage Diseases - diagnosis Male Neonatal Screening Newborn screening Pilot Projects Pompe disease Quality Control Reproducibility of Results Sequence Analysis, DNA Taiwan Tandem Mass Spectrometry
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