Neonatal intrahepatic cholestasis caused by citrin deficiency: Clinical and laboratory investigation of 13 subjects in mainland of China-Reference-Cited by-同舟云学术

Neonatal intrahepatic cholestasis caused by citrin deficiency: Clinical and laboratory investigation of 13 subjects in mainland of China

Published:2009-09 Issue:9 Volume:41 Page:683-689
ISSN:1590-8658
Container-title:Digestive and Liver Disease
language:en
Short-container-title:Digestive and Liver Disease

Author:

Song Y.-Z.,Li B.-X.,Chen F.-P.,Liu S.-R.,Sheng J.-S.,Ushikai M.,Zhang C.-H.,Zhang T.,Wang Z.-N.,Kobayashi K.,Saheki T.,Zheng X.-Y.

Publisher

Elsevier BV

Subject

Gastroenterology,Hepatology

Reference43 articles.

1. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD);Saheki;J Hum Genet,2002

2. Kobayashi K, Saheki T. Citrin deficiency. GeneReviews at GeneTests [www.genetests.org] Medical genetics information resource, developed at the University of Washington, Seattle. [2005. 9. 16/2008. 7. 2].

3. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein;Kobayashi;Nat Genet,1999

4. Infantile cholestatic jaundice associated with adult-onset type II citrullinemia;Tazawa;J Pediatr,2001

5. Neonatal presentation of adult-onset type II citrullinemia;Ohura;Hum Genet,2001

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1. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Thai infants: Case reports on clinical presentation, genotype analysis, and considerations for negative newborn screening;Medical Reports;2024-04

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5. Genetic and clinical features of patients with intrahepatic cholestasis caused by citrin deficiency;Journal of Pediatric Endocrinology and Metabolism;2023-05-08