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Combining Newborn Metabolic and Genetic Screening for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

Yiming Lin,Yaru Liu,Lin Zhu,Kaixing Le,Yuyan Shen,Chiju Yang,Xigui Chen,Haili Hu,Qingqing Ma,Xueqin Shi,Zhenzhen Hu,Jianbin Yang,Yaping Shen,Chien-Hsing Lin,Chenggang Huang,Xinwen Huang

JOURNAL OF INHERITED METABOLIC DISEASE（2020）

Cited 35|Views25
Key words
Agena iPLEX assay,MassARRAY genotyping,neonatal intrahepatic cholestasis caused by citrin deficiency,newborn screening
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