The screening of inborn errors of metabolism in sick Chinese infants by tandem mass spectrometry and gas chromatography/mass spectrometry

Analyses of amino acid/acylcarnitines in dried blood spots (DBS) and organic acids in urine are the primary tests for inborn errors of metabolism (IEMs). Automated tandem mass spectrometry (MS/MS) and gas chromatography/mass spectrometry (GC/MS) can rapidly and simultaneously detect numerous metabol...

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Veröffentlicht in:	Clinica chimica acta 2011-06, Vol.412 (13), p.1270-1274
Hauptverfasser:	Sun, Weihua, Wang, Yi, Yang, Yi, Wang, Jianshe, Cao, Yun, Luo, Feihong, Lu, Wei, Peng, Yongmei, Yao, Haili, Qiu, Penglin
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Amino Acids - blood Asian Continental Ancestry Group Child Child, Preschool Dried blood spot Fatty Acids - metabolism Female Gas Chromatography-Mass Spectrometry - methods Humans Inborn errors of metabolism Infant Infant, Newborn Male Metabolism, Inborn Errors - blood Metabolism, Inborn Errors - diagnosis Metabolism, Inborn Errors - metabolism Metabolism, Inborn Errors - urine Oxidation-Reduction Sick infants Tandem Mass Spectrometry - methods Urine
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