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index medicus (29) 29
citrin deficiency (28) 28
ctln2 (26) 26
humans (26) 26
gene (17) 17
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therapy (12) 12
citrullinemia - genetics (11) 11
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membrane transport proteins - genetics (10) 10
mitochondrial proteins - genetics (10) 10
analysis (9) 9
argininosuccinate synthetase (9) 9
identification (9) 9
liver-transplantation (9) 9
organic anion transporters - deficiency (9) 9
adult (8) 8
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hepatocellular-carcinoma (8) 8
animals (7) 7
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ii citrullinemia (7) 7
infant, newborn (7) 7
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calcium-binding proteins - genetics (6) 6
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liver (6) 6
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frequency (5) 5
homozygous slc25a13 mutation (5) 5
middle aged (5) 5
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arginine (4) 4
argininosuccinate synthase - genetics (4) 4
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citrulline (4) 4
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glycerol (4) 4
membrane transport proteins - deficiency (4) 4
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mitochondrial membrane transport proteins - genetics (4) 4
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molecular sequence data (4) 4
organic anion transporters - genetics (4) 4
secretory trypsin-inhibitor (4) 4
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biochemistry, general (3) 3
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Molecular Genetics and Metabolism, ISSN 1096-7192, 04/2017, Volume 120, Issue 4, pp. 306 - 316
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
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
Clinical Neurology, ISSN 0009-918X, 2014, Volume 54, Issue 9, pp. 747 - 750
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 7/2005, Volume 50, Issue 7, pp. 338 - 346
Journal Article
Neurology India, ISSN 0028-3886, 03/2015, Volume 63, Issue 2, pp. 220 - 222
Citrin deficiency is an autosomal recessive genetic disorder caused by a defect in the mitochondrial aspartate/glutamate antiporter, citrin. The disorder... 
hyperammonemia | SLC25A13 gene | organic psychosis | Citrin deficiency | India | ENCEPHALOPATHY | THERAPY | II CITRULLINEMIA CTLN2 | NEUROSCIENCES | Adults | Deficiency diseases | Case studies | Complications and side effects | Care and treatment | Health aspects | Membrane proteins | Index Medicus
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2009, Volume 96, Issue 1, pp. 44 - 49
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
Journal of Human Genetics, ISSN 1434-5161, 6/2008, Volume 53, Issue 6, pp. 534 - 545
Journal Article
Journal Article