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Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency

Lin, YM; Liu, YR; Zhu, L; Le, KX; Shen, YY; Yang, CJ; Chen, XG; Hu, HL; Ma, QQ; Shi, XQ; Hu, ZZ; Yang, JB; Shen, YP; Lin, CH; Huang, CG; Huang, XW

Huang, XW (corresponding author), Zhejiang Univ, Natl Clin Res Ctr Child Hlth, Dept Genet & Metab, Childrens Hosp,Sch Med, 3333 Binsheng Rd, Hangzhou 310052, Peoples R China.

JOURNAL OF INHERITED METABOLIC DISEASE, 2020; 43 (3): 467

Abstract

To evaluate the feasibility of incorporating genetic screening for neonatal intrahepatic cholestasis, caused by citrin deficiency (NICCD), into the cu......

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