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Article

Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system.

The Journal of pediatrics - 1 Oct 2012

Chen Szu-Ta, Su Yi-Ning, Ni Yen-Hsuan, Hwu Wuh-Liang, Lee Ni-Chung, Chien Yin-Hsiu, Chang Cheng-Chi, Chen Huey-Ling, Chang Mei-Hwei

Abstract excerpt

OBJECTIVE: To assess the diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) by using high-resolution melting (HRM) analysis and a clinical scoring system. STUDY DESIGN: Genetic variations in the 18 coding exons were prescreened using HRM analysis and then confirmed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22575253
DOI: 10.1016/j.jpeds.2012.03.038

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22575253-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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