Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China

In this study, we evaluated the incidence and genetic characteristics of hyperphenylalaninemia (HPA) in Xiamen, China. We analyzed the newborn screening data of HPA, obtained using a fluorometric method and tandem mass spectrometry (MS/MS), from 2013 to 2017. The suspected positive samples were furt...

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Veröffentlicht in:	Clinica chimica acta 2019-11, Vol.498, p.161-166
Hauptverfasser:	Wang, Xudong, He, Ying, Jiang, Yancheng, Feng, Xiaomei, Zhang, Guowang, Xia, Zhongmin, Zhou, Yulin
Format:	Artikel
Sprache:	eng
Schlagworte:	China - epidemiology DNA Mutational Analysis - methods Fluorometry - methods Humans Hyperphenylalaninemia Incidence Infant, Newborn Mass Screening - methods Molecular Epidemiology Mutation Mutation spectrum Neonatal Screening - methods Newborn screening Phenylketonurias - diagnosis Phenylketonurias - genetics Sequence Analysis, DNA Tandem mass spectrometry Tandem Mass Spectrometry - methods Xiamen
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