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index medicus (70) 70
humans (67) 67
slc25a13 (51) 51
ii citrullinemia (46) 46
citrin deficiency (44) 44
mutation (41) 41
male (38) 38
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slc25a13 gene (37) 37
citrullinemia - genetics (36) 36
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calcium-binding proteins - deficiency (26) 26
mitochondrial membrane transport proteins (26) 26
niccd (26) 26
citrin (25) 25
medicine, research & experimental (25) 25
mitochondrial membrane transport proteins - genetics (25) 25
organic anion transporters - deficiency (25) 25
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mutations (24) 24
aspartate-glutamate carrier (22) 22
protein (22) 22
urea cycle (22) 22
adult (21) 21
citrullinemia (21) 21
membrane transport proteins - genetics (21) 21
mitochondrial proteins - genetics (21) 21
biochemistry & molecular biology (20) 20
liver-transplantation (20) 20
frequency (18) 18
argininosuccinate synthetase (17) 17
cholestasis (17) 17
adult-onset type ii citrullinemia (16) 16
cholestasis, intrahepatic - genetics (16) 16
neonatal intrahepatic cholestasis (16) 16
infants (14) 14
neonatal intrahepatic cholestasis caused by citrin deficiency (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
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
genetic aspects (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
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homozygous slc25a13 mutation (7) 7
mice, knockout (7) 7
adolescent (6) 6
argininosuccinate synthase - metabolism (6) 6
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cholestasis, intrahepatic - etiology (6) 6
classical citrullinemia (6) 6
disease models, animal (6) 6
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intrahepatic cholestasis (6) 6
jaundice, obstructive (6) 6
liver (6) 6
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Journal of Human Genetics, ISSN 1434-5161, 6/2008, Volume 53, Issue 6, pp. 534 - 545
Journal Article
Experimental Biology and Medicine, ISSN 1535-3702, 6/2017, Volume 242, Issue 12, pp. 1271 - 1278
Journal Article
Human Mutation, ISSN 1059-7794, 02/2002, Volume 19, Issue 2, pp. 122 - 130
We have recently identified SLC25A13 on chromosome 7q21.3 as the gene responsible for adult‐onset type II citrullinemia (CTLN2) and found seven mutations in... 
NICCD | liver disease | mutation detection | adult‐onset type II citrullinemia | CTLN2 | neonatal intrahepatic cholestasis caused by citrin deficiency | citrin deficiency | multiple DNA diagnosis | Japanese | SLC25A13 | Mutation detection | Multiple DNA diagnosis | Adult-onset type II citrullinemia | Neonatal intrahepatic cholestasis caused by citrin deficiency | Liver disease | Citrin deficiency | ORTHOTOPIC LIVER-TRANSPLANTATION | ARGININOSUCCINATE SYNTHETASE | adult-onset type II citrullinemia | CLASSICAL CITRULLINEMIA | MESSENGER-RNA | GENE | UREA CYCLE | GENETICS & HEREDITY | II CITRULLINEMIA | Cholestasis - genetics | Japan - epidemiology | Citrullinemia - diagnosis | Gene Frequency - genetics | Cholestasis - congenital | Cholestasis - complications | Humans | Asian Continental Ancestry Group - genetics | Molecular Sequence Data | Citrullinemia - epidemiology | Male | DNA Mutational Analysis - methods | Mitochondrial Proteins | Genetic Testing - methods | Mutation, Missense - genetics | Mitochondrial Membrane Transport Proteins | Base Sequence | Hepatitis - genetics | Polymerase Chain Reaction | Female | Infant, Newborn | Citrullinemia - genetics | Cholestasis - diagnosis | Calcium-Binding Proteins - deficiency | Genotype | Mutation - genetics | Hepatitis - congenital | Hepatitis - complications | Hepatitis - diagnosis | Polymorphism, Restriction Fragment Length | Membrane Transport Proteins | Age of Onset | Alleles | Codon, Nonsense - genetics | Calcium-Binding Proteins - genetics | Index Medicus
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2011, Volume 103, Issue 3, pp. 293 - 296
Mutations of the gene, which encodes citrin, result in adult-onset type II citrullinemia (CTLN2). Because CTLN2 has been associated with hepatocellular... 
Hepatocellular carcinoma | Adult-onset type II citrullinemia | SLC25A13 mutation | Liver cancer | Carcinoma | Gene mutations | Analysis | Genetic research | Disease susceptibility | Genetic aspects | Cancer | DNA | Point mutation | genomics | Hepatitis B | Tumors
Journal Article
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 03/2015, Volume 28, Issue 3, pp. 471 - 475
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 7/2005, Volume 50, Issue 7, pp. 338 - 346
Journal Article