Screening for hereditary tyrosinemia and genotype analysis in newborns

To analyze the results of screening for hereditary tyrosinemia (HT) in newborns and its clinical features and genotype. The HT screening was conducted among 2 188 784 newborns from November 2013 to November 2018. The tyrosine (TYR)/ succinylacetone (SA) levels were detected by tandem mass spectromet...

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Veröffentlicht in:	Zhejiang da xue xue bao. Journal of Zhejiang University. Medical sciences. Yi xue ban 2019-06, Vol.48 (4), p.459
Hauptverfasser:	Tong, Fan, Yang, Rulai, Liu, Chang, Wu, Dingwen, Zhang, Ting, Huang, Xinwen, Hong, Fang, Qian, Guling, Huang, Xiaolei, Zhou, Xuelian, Shu, Qiang, Zhao, Zhengyan
Format:	Artikel
Sprache:	chi
Schlagworte:	Child Cyclohexanones - therapeutic use Genotype Humans Infant Infant, Newborn Neonatal Screening Nitrobenzoates - therapeutic use Tandem Mass Spectrometry Tyrosinemias - diagnosis Tyrosinemias - drug therapy Tyrosinemias - genetics
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