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[Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2010

Xing Ya-zhi, Qiu Wen-juan, Ye Jun, Han Lian-shu, Xu Shan-shan, Zhang Hui-wen, Gao Xiao-lan, Wang Yu, Gu Xue-fan

Abstract excerpt

OBJECTIVE: To investigate the clinical and laboratory features of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and to characterize the molecular basis and prognosis of this disease. METHODS: Twenty-six patients with NICCD were collected because of idiopathic intrahepatic cholestasis and jaundice. The diagnosis was made by routine laboratory data collection, tandem mass spectrometry...

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Source

Identifiers

PMID: 20376801
DOI: 10.3760/cma.j.issn.1003-9406.2010.02.014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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