Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference26 articles.
1. Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2;Okano;Mol. Genet. Metab.,2019
2. Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients;Tazawa;Mol. Genet. Metab.,2004
3. Neonatal intrahepatic cholestasis caused by citrin deficiency in 2 Malaysian siblings: outcome at one year of life;Thong;Singap. Med. J.,2010
4. Screening for five prevalent mutations of SLC25A13 gene in Guangdong, China: a molecular epidemiologic survey of citrin deficiency;Zhang;Tohoku. J. Exp. Med.,2014
5. The gene mutated in adult-onset type II citrullinaemia encodes a putativemitochondrial carrier protein;Kobayashi;Nat. Genet.,1999
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022;Frontiers in Genetics;2024-05-28
2. Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single‐gene testing and next‐generation sequencing in East Asia;Journal of Gastroenterology and Hepatology;2024-02-07
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