Associated Papers
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.
Kido J et al.
Human Mutation, 2025
Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency.
Wang K et al.
Frontiers in Pediatrics, 2023
[A case of neonatal intrahepatic cholestasis caused by citrin deficiency complicated with congenital biliary atresia].
Tong F et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013
[SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency].
Wen PQ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2011
[Neonatal intrahepatic cholestasis caused by citrin deficiency: case report].
Liu ZF et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010
[Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency].
Song YZ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
[SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency].
Song YZ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2007
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