Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8 year journey from pilot to current program

IEM screening by ESI/MS/MS was introduced in Singapore in 2006. There were two phases; a pilot study followed by implementation of the current program. The pilot study was over a 4 year period. During the pilot study, a total of 61,313 newborns were screened, and 20 cases of IEM were diagnosed (dete...

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Veröffentlicht in:	Molecular genetics and metabolism 2014-09, Vol.113 (1-2), p.53-61
Hauptverfasser:	Lim, J S, Tan, E S, John, C M, Poh, S, Yeo, S J, Ang, J S M, Adakalaisamy, P, Rozalli, R A, Hart, C, Tan, E T H, Ranieri, E, Rajadurai, V S, Cleary, M A, Goh, D L M
Format:	Artikel
Sprache:	eng
Schlagworte:	Algorithms Humans Incidence Infant, Newborn Mass Screening Metabolism, Inborn Errors - diagnosis Metabolism, Inborn Errors - epidemiology Neonatal Screening - methods Neonatal Screening - standards Pilot Projects Prevalence Reproducibility of Results Sensitivity and Specificity Singapore - epidemiology Spectrometry, Mass, Electrospray Ionization Tandem Mass Spectrometry
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