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International Journal of Molecular Medicine, ISSN 1107-3756, 07/2011, Volume 28, Issue 1, pp. 33 - 40
Journal Article
Gene, ISSN 0378-1119, 04/2019, Volume 693, pp. 69 - 75
The human gene encodes the liver type aspartate/glutamate carrier isoform 2 (AGC2, commonly named as citrin), which plays a key role in the main NADH-shuttle... 
Promoter | SLC25A13 gene | Mutation | Dual-luciferase reporter assay | Citrin deficiency | CITRIN DEFICIENCY NICCD | NF-Y | EAST-ASIA | IDENTIFICATION | FEATURES | NEONATAL INTRAHEPATIC CHOLESTASIS | GENETICS & HEREDITY | II CITRULLINEMIA | ASPARTATE GLUTAMATE CARRIER | MUTATIONS | BINDING | Anopheles | Codon | Analysis | Genes | Luciferase | Genetic research | Genetic transcription | Genetic translation | Index Medicus
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2004, Volume 81, pp. 20 - 26
Citrin is a mitochondrial aspartate glutamate carrier primarily expressed in the liver, heart, and kidney. We found that adult-onset type II citrullinemia is... 
Urea synthesis | Argininosuccinate synthetase | Adult-onset type II citrullinemia | Malate–aspartate shuttle | Hyperammonemia | Citrullinemia | Intrahepatic cholestasis caused by citrin deficiency | Aspartate glutamate carrier | Citrin | SLC25A13 | Malate-aspartate shuttle | MEDICINE, RESEARCH & EXPERIMENTAL | SLC25A13 MUTATIONS | intrahepatic cholestasis caused by citrin deficiency malate-aspartate shuttle | PROTEIN | citrin | BIOCHEMISTRY & MOLECULAR BIOLOGY | aspartate glutamate carrier | INFANTILE CITRULLINEMIA | IDENTIFICATION | adult-onset type II citrullinemia | RECOVERY | argininosuccinate synthetase | GENE | GENETICS & HEREDITY | citrullinemia | hyperammonemia | PARTIAL LIVER-TRANSPLANTATION | SECRETORY TRYPSIN-INHIBITOR | urea synthesis | PATIENT | Citrullinemia - genetics | Hepatitis - epidemiology | Japan - epidemiology | Citrullinemia - metabolism | Gene Frequency | Humans | Liver - metabolism | Calcium-Binding Proteins - deficiency | Citrullinemia - epidemiology | Male | Mitochondrial Proteins - genetics | Mitochondrial Membrane Transport Proteins | Organic Anion Transporters - deficiency | Citrullinemia - therapy | Membrane Transport Proteins - genetics | Models, Biological | Hepatitis - genetics | Hepatitis - metabolism | Adult | Female | Urea - metabolism | Mutation | Infant, Newborn | Index Medicus
Journal Article
Journal Article
Journal of Nutritional Science and Vitaminology, ISSN 0301-4800, 2011, Volume 57, Issue 3, pp. 239 - 245
Some patients with citrin deficiency caused by SLC25A13 gene mutations develop adult-onset type II citrullinemia (CTLN2) with hepatic encephalopathy. A recent... 
adult-onset type II citrullinemia (CTLN2) | PFC ratio | low-carbohydrate diet | Low-carbohydrate diet | Adult-onset type II citrullinemia (CTLN2) | SLC25A13 GENE | CITRIN DEFICIENCY | NUTRITION & DIETETICS | THERAPY | CTLN2 | MUTATIONS | IDENTIFICATION | ASPARTATE-GLUTAMATE CARRIER
Journal Article
Transplantation Proceedings, ISSN 0041-1345, 2013, Volume 45, Issue 9, pp. 3432 - 3437
Abstract Adult-onset type II citrullinemia (CTLN2), an autosomal recessive disorder caused by a mutation in the SLC25A13 gene, is characterized by increased... 
Surgery | SURGERY | CTLN2 | LIVING DONORS | IMMUNOLOGY | HOMOZYGOUS SLC25A13 MUTATION | TRANSPLANTATION | ENCEPHALOPATHY | CITRIN DEFICIENCY | HEPATOCELLULAR-CARCINOMA | CLINICAL PICTURES | THERAPY | UREA CYCLE | PATIENT | Citrullinemia - surgery | Adult | Citrullinemia - therapy | Liver Transplantation | Humans | Ammonia | Transplantation | Gene expression | Analysis | Liver | Donation of organs, tissues, etc | Index Medicus
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 2014, Volume 1, Issue 1, pp. 42 - 50
Citrin, encoded by , is a component of the malate-aspartate shuttle, which is the main NADH-transporting system in the liver. Citrin deficiency causes neonatal... 
Malate-aspartate shuttle | Neonatal intrahepatic cholestasis (NICCD) | Medium-chain triglycerides (MCT) | Adult-onset type II citrullinemia (CTLN2) | Citrin deficiency | SLC25A13
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 12/2018, Volume 17, pp. 3 - 8
Background and objectives: This retrospective study analysed a case series of subjects with citrin deficiency, and aims to present the molecular and clinical... 
CTLN2 | Hemangioendothelioma | NICCD | FTTDCD | Citrin deficiency | SLC25A13 MUTATIONS | DIAGNOSIS | LIVER-TRANSPLANTATION | FAILURE | HEPATOCELLULAR-CARCINOMA | GENE | NEONATAL INTRAHEPATIC CHOLESTASIS | GENETICS & HEREDITY | II CITRULLINEMIA CTLN2 | INFANT
Journal Article
Experimental Biology and Medicine, ISSN 1535-3702, 6/2017, Volume 242, Issue 12, pp. 1271 - 1278
Journal Article
世界胃肠病学杂志:英文版(电子版), ISSN 1007-9327, 2015, Issue 23, pp. 7331 - 7334
Citrin deficiency typically presents as neonatalintrahepatic cholestasis and resolves in late infancy.Here we report a case of citrin deficiency that... 
infection | deficiency | failure;Respiratory | Liver | Infant | Citrin | SLC25A13
Journal Article
BBA - Gene Structure and Expression, ISSN 0167-4781, 2002, Volume 1574, Issue 3, pp. 283 - 292
The present report describes the expression profiles of different tissues and developmental changes of mouse aspartate/glutamate carrier (AGC) genes, Slc25a13... 
Aspartate/glutamate carrier | Aralar1 | Ornithine transporter 1 | Slc25a12 | Type II citrullinemia | Slc25a13 | Citrin
Journal Article