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index medicus (82) 82
humans (76) 76
ii citrullinemia (66) 66
citrin deficiency (52) 52
male (47) 47
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genetics & heredity (39) 39
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gene (35) 35
adult-onset type ii citrullinemia (32) 32
calcium-binding proteins - deficiency (32) 32
medicine, research & experimental (32) 32
organic anion transporters - deficiency (31) 31
slc25a13 (29) 29
citrullinemia - genetics (27) 27
infant (27) 27
infant, newborn (26) 26
niccd (26) 26
aspartate-glutamate carrier (25) 25
mitochondrial membrane transport proteins (25) 25
citrin (23) 23
membrane transport proteins - genetics (23) 23
mitochondrial proteins - genetics (23) 23
mutations (23) 23
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adult (21) 21
mitochondrial membrane transport proteins - genetics (21) 21
urea cycle (20) 20
liver-transplantation (19) 19
biochemistry & molecular biology (17) 17
cholestasis (17) 17
gastroenterology & hepatology (17) 17
argininosuccinate synthetase (16) 16
cholestasis, intrahepatic - genetics (16) 16
hyperammonemia (16) 16
ii citrullinemia ctln2 (16) 16
neonatal intrahepatic cholestasis (16) 16
pediatrics (16) 16
analysis (15) 15
aspartate glutamate carrier (15) 15
endocrinology & metabolism (15) 15
infants (15) 15
liver (15) 15
calcium-binding proteins - genetics (14) 14
frequency (14) 14
mice (14) 14
therapy (14) 14
citrullinemia - diagnosis (13) 13
ctln2 (13) 13
mitochondria (13) 13
organic anion transporters - genetics (13) 13
animals (12) 12
citrullinemia - metabolism (12) 12
genetic aspects (12) 12
middle aged (12) 12
slc25a13 gene (12) 12
child, preschool (11) 11
citrullinemia (11) 11
aspartate (10) 10
base sequence (10) 10
citrullinemia - complications (10) 10
east-asia (10) 10
hepatocellular-carcinoma (10) 10
slc25a13 mutations (10) 10
child (9) 9
diagnosis (9) 9
dna mutational analysis (9) 9
glutamate (9) 9
internal medicine (9) 9
medicine & public health (9) 9
membrane transport proteins - deficiency (9) 9
mitochondrial proteins - deficiency (9) 9
mutation - genetics (9) 9
neonatal intrahepatic cholestasis caused by citrin deficiency (9) 9
patient (9) 9
sodium pyruvate (9) 9
adolescent (8) 8
amino acids - blood (8) 8
asian continental ancestry group - genetics (8) 8
biochemistry, general (8) 8
disease (8) 8
encephalopathy (8) 8
glycerol (8) 8
jaundice, obstructive (8) 8
medicine, general & internal (8) 8
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metabolites (8) 8
molecular sequence data (8) 8
amino acids (7) 7
cholestasis, intrahepatic - etiology (7) 7
gene mutations (7) 7
genes (7) 7
genetic research (7) 7
human genetics (7) 7
metabolic diseases (7) 7
mutation, missense (7) 7
secretory trypsin-inhibitor (7) 7
adult-onset citrullinemia (6) 6
citrulline (6) 6
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Internal Medicine, ISSN 0918-2918, 2005, Volume 44, Issue 3, pp. 188 - 195
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 04/2017, Volume 120, Issue 4, pp. 306 - 316
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
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 Human Genetics, ISSN 1434-5161, 6/2008, Volume 53, Issue 6, pp. 534 - 545
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
Journal of Biological Chemistry, ISSN 0021-9258, 08/2007, Volume 282, Issue 34, pp. 25041 - 25052
Journal Article