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index medicus (73) 73
humans (69) 69
slc25a13 (57) 57
ii citrullinemia (49) 49
citrin deficiency (48) 48
slc25a13 gene (42) 42
mutation (41) 41
female (38) 38
male (38) 38
citrullinemia - genetics (36) 36
genetics & heredity (34) 34
identification (33) 33
gene (31) 31
calcium-binding proteins - deficiency (27) 27
citrin (27) 27
infant (27) 27
mitochondrial membrane transport proteins (26) 26
niccd (26) 26
organic anion transporters - deficiency (26) 26
medicine, research & experimental (25) 25
mitochondrial membrane transport proteins - genetics (25) 25
infant, newborn (24) 24
mutations (24) 24
aspartate-glutamate carrier (22) 22
biochemistry & molecular biology (22) 22
citrullinemia (22) 22
protein (22) 22
urea cycle (22) 22
adult (21) 21
membrane transport proteins - genetics (21) 21
mitochondrial proteins - genetics (21) 21
liver-transplantation (20) 20
cholestasis (19) 19
argininosuccinate synthetase (18) 18
frequency (18) 18
neonatal intrahepatic cholestasis caused by citrin deficiency (18) 18
adult-onset type ii citrullinemia (17) 17
neonatal intrahepatic cholestasis (17) 17
cholestasis, intrahepatic - genetics (16) 16
infants (14) 14
aspartate glutamate carrier (13) 13
base sequence (13) 13
calcium-binding proteins - genetics (13) 13
citrullinemia - diagnosis (13) 13
animals (11) 11
citrullinemia - metabolism (11) 11
ctln2 (11) 11
hepatocellular-carcinoma (11) 11
mice (11) 11
mutation - genetics (11) 11
pediatrics (11) 11
slc25a13 mutations (11) 11
analysis (10) 10
dna mutational analysis (10) 10
hyperammonemia (10) 10
membrane transport proteins - deficiency (10) 10
middle aged (10) 10
mitochondrial proteins - deficiency (10) 10
secretory trypsin-inhibitor (10) 10
therapy (10) 10
asian continental ancestry group - genetics (9) 9
citrullinemia - complications (9) 9
gastroenterology & hepatology (9) 9
genetic aspects (9) 9
ii citrullinemia ctln2 (9) 9
molecular sequence data (9) 9
organic anion transporters - genetics (9) 9
polymerase chain reaction (9) 9
diagnosis (8) 8
east-asia (8) 8
genes (8) 8
genetic research (8) 8
medicine, general & internal (8) 8
argininosuccinate synthase - genetics (7) 7
citrulline - blood (7) 7
citrullinemia - pathology (7) 7
gene frequency (7) 7
genotype (7) 7
heterozygote (7) 7
homozygote (7) 7
homozygous slc25a13 mutation (7) 7
liver (7) 7
messenger-rna (7) 7
mice, knockout (7) 7
adolescent (6) 6
argininosuccinate synthase - metabolism (6) 6
child (6) 6
child, preschool (6) 6
cholestasis, intrahepatic - etiology (6) 6
classical citrullinemia (6) 6
disease models, animal (6) 6
endocrinology & metabolism (6) 6
genetic testing (6) 6
intrahepatic cholestasis (6) 6
jaundice, obstructive (6) 6
liver - metabolism (6) 6
medicine (6) 6
patient (6) 6
phenotype (6) 6
urea - metabolism (6) 6
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International Journal of Molecular Medicine, ISSN 1107-3756, 07/2011, Volume 28, Issue 1, pp. 33 - 40
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 03/2015, Volume 1852, Issue 3, pp. 473 - 481
Journal Article
Chinese Journal of Medical Genetics, ISSN 1003-9406, 10/2017, Volume 34, Issue 5, pp. 676 - 679
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
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 07/2018, Volume 103, Issue 7, pp. 2488 - 2497
Context: Citrin-deficient infants present neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), which resolves at 12 months. Thereafter, they... 
SLC25A13 GENE | OXIDATIVE STRESS | GROWTH-HORMONE | HOMOGENEOUS ASSAYS | ALZHEIMERS-DISEASE | CARBOHYDRATE-RESTRICTED DIET | ENDOCRINOLOGY & METABOLISM | II CITRULLINEMIA | BILE-ACID SYNTHESIS | HDL-CHOLESTEROL | KETOGENIC DIET | Index Medicus | Abridged Index Medicus
Journal Article
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 02/2019, Volume 36, Issue 2, pp. 116 - 119
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
Experimental Biology and Medicine, ISSN 1535-3702, 6/2017, Volume 242, Issue 12, pp. 1271 - 1278
Journal Article
Journal Article
Genetics, ISSN 0016-6731, 03/2018, Volume 208, Issue 3, pp. 1165 - 1179
Journal Article
Journal of Korean Medical Science, ISSN 1011-8934, 12/2007, Volume 22, Issue 6, pp. 952 - 956
Citrin is a liver-type mitochondrial aspartate-glutamate carrier encoded by the SLC25A13 gene, and its deficiency causes adult-onset type 11 citrullinemia and... 
Citrullinemia | Citrin | Mutation | Cholestasis | SLC25A13 | mutation | SLC25A13 MUTATIONS | MEDICINE, GENERAL & INTERNAL | citrin | GENE | cholestasis | FREQUENCY | citrullinemia | II CITRULLINEMIA | ASPARTATE GLUTAMATE CARRIER | IDENTIFICATION
Journal Article