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Article

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

Journal of inherited metabolic disease - 1 May 2020

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

Abstract excerpt

To evaluate the feasibility of incorporating genetic screening for neonatal intrahepatic cholestasis, caused by citrin deficiency (NICCD), into the current newborn screening (NBS) program. We designed a high-throughput iPLEX genotyping assay to detect 28 SLC25A13 mutations in the Chinese population. From March 2018 to June 2018, 237 630 newborns were screened by tandem mass spectrometry at six hospitals. Newborns...

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Identifiers

PMID: 31845334
DOI: 10.1002/jimd.12206

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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