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
Distinct roles for the domains of the mitochondrial aspartate/glutamate carrier citrin in organellar localization and substrate transport.
Tavoulari S et al.
Molecular Metabolism, 2024
Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.
Tavoulari S et al.
Trends in Endocrinology and Metabolism: Tem, 2022
Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.
Lin Y et al.
Journal of Inherited Metabolic Disease, 2020
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.
Lin WX et al.
Scientific Reports, 2016
SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.
Song YZ et al.
Plos One, 2013
Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China.
Song YZ et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2009
[Citrin deficiency is an important etiology for cholestatic liver disease in children].
Song YZ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
[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
[A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency].
Song YZ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2006
Identification of 13 novel pathogenic SLC25A13 variants and comparison of the genetic spectrum among different geographic regions: Molecular characterization of a large cohort of citrin deficiency in China.
Cheng RL et al.
Molecular Genetics and Metabolism, 0
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