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index medicus (27) 27
humans (24) 24
male (20) 20
female (18) 18
infant (15) 15
citrin deficiency (14) 14
ii citrullinemia (13) 13
gene (11) 11
identification (11) 11
infant, newborn (11) 11
citrullinemia - genetics (10) 10
genetics & heredity (10) 10
niccd (10) 10
pediatrics (10) 10
calcium-binding proteins - deficiency (9) 9
diagnosis (9) 9
mitochondrial membrane transport proteins - genetics (9) 9
mutation (9) 9
neonatal intrahepatic cholestasis (9) 9
cholestasis (8) 8
cholestasis, intrahepatic - genetics (8) 8
infants (8) 8
medicine, research & experimental (8) 8
organic anion transporters - deficiency (8) 8
slc25a13 (8) 8
liver-transplantation (7) 7
mitochondrial membrane transport proteins (7) 7
protein (7) 7
asian continental ancestry group - genetics (6) 6
base sequence (6) 6
biliary atresia (6) 6
frequency (6) 6
gallbladder diseases (6) 6
gastroenterology & hepatology (6) 6
liver (6) 6
membrane transport proteins - genetics (6) 6
mitochondrial proteins - genetics (6) 6
molecular sequence data (6) 6
neonatal cholestasis (6) 6
adult-onset type ii citrullinemia (5) 5
child (5) 5
citrullinemia - diagnosis (5) 5
dna mutational analysis (5) 5
mutations (5) 5
neonatal hepatitis (5) 5
neonatal intrahepatic cholestasis caused by citrin deficiency (5) 5
retrospective studies (5) 5
amino acids - blood (4) 4
bile (4) 4
biochemistry & molecular biology (4) 4
calcium-binding proteins - genetics (4) 4
children (4) 4
cholestasis, intrahepatic - diagnosis (4) 4
east-asia (4) 4
genetic aspects (4) 4
hepatitis (4) 4
hepatocellular-carcinoma (4) 4
ii citrullinemia ctln2 (4) 4
laboratories (4) 4
medicine (4) 4
metabolism (4) 4
patients (4) 4
proteins (4) 4
research article (4) 4
slc25a13 gene (4) 4
urea cycle (4) 4
adult (3) 3
amino acid sequence (3) 3
argininosuccinate synthetase (3) 3
aspartate glutamate carrier (3) 3
biliary atresia - complications (3) 3
child, preschool (3) 3
china (3) 3
cholestasis - etiology (3) 3
cholestasis, intrahepatic - complications (3) 3
citrin (3) 3
citrulline - blood (3) 3
citrullinemia - complications (3) 3
defects (3) 3
diseases (3) 3
gastroenterology (3) 3
gene sequencing (3) 3
genes (3) 3
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medicine & public health (3) 3
membrane transport proteins - deficiency (3) 3
mitochondrial proteins - deficiency (3) 3
mutation - genetics (3) 3
neonates (3) 3
organic anion transporters - genetics (3) 3
slc25a13 mutations (3) 3
adult‐onset type ii citrullinemia (2) 2
age (2) 2
age of onset (2) 2
alagille syndrome (2) 2
alleles (2) 2
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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
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
PLoS ONE, ISSN 1932-6203, 09/2013, Volume 8, Issue 9, pp. e74544 - e74544
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