X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (68) 68
index medicus (68) 68
ii citrullinemia (42) 42
slc25a13 (42) 42
female (38) 38
citrin deficiency (37) 37
male (37) 37
citrullinemia - genetics (36) 36
mutation (34) 34
genetics & heredity (33) 33
identification (31) 31
gene (28) 28
calcium-binding proteins - deficiency (27) 27
slc25a13 gene (27) 27
infant (26) 26
mitochondrial membrane transport proteins (26) 26
organic anion transporters - deficiency (26) 26
mitochondrial membrane transport proteins - genetics (25) 25
infant, newborn (24) 24
medicine, research & experimental (23) 23
niccd (23) 23
aspartate-glutamate carrier (22) 22
urea cycle (22) 22
membrane transport proteins - genetics (21) 21
mitochondrial proteins - genetics (21) 21
mutations (21) 21
protein (21) 21
adult (20) 20
biochemistry & molecular biology (20) 20
citrin (20) 20
liver-transplantation (18) 18
argininosuccinate synthetase (16) 16
cholestasis, intrahepatic - genetics (16) 16
citrullinemia (16) 16
neonatal intrahepatic cholestasis (16) 16
adult-onset type ii citrullinemia (15) 15
frequency (15) 15
base sequence (13) 13
calcium-binding proteins - genetics (13) 13
cholestasis (13) 13
citrullinemia - diagnosis (13) 13
aspartate glutamate carrier (12) 12
infants (12) 12
animals (11) 11
citrullinemia - metabolism (11) 11
hepatocellular-carcinoma (11) 11
mice (11) 11
mutation - genetics (11) 11
dna mutational analysis (10) 10
membrane transport proteins - deficiency (10) 10
middle aged (10) 10
mitochondrial proteins - deficiency (10) 10
secretory trypsin-inhibitor (10) 10
slc25a13 mutations (10) 10
analysis (9) 9
asian continental ancestry group - genetics (9) 9
citrullinemia - complications (9) 9
ctln2 (9) 9
molecular sequence data (9) 9
organic anion transporters - genetics (9) 9
east-asia (8) 8
gastroenterology & hepatology (8) 8
genes (8) 8
ii citrullinemia ctln2 (8) 8
polymerase chain reaction (8) 8
therapy (8) 8
argininosuccinate synthase - genetics (7) 7
citrulline - blood (7) 7
citrullinemia - pathology (7) 7
gene frequency (7) 7
genetic aspects (7) 7
genetic research (7) 7
genotype (7) 7
heterozygote (7) 7
homozygote (7) 7
homozygous slc25a13 mutation (7) 7
medicine, general & internal (7) 7
mice, knockout (7) 7
pediatrics (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
diagnosis (6) 6
disease models, animal (6) 6
hyperammonemia (6) 6
liver - metabolism (6) 6
messenger-rna (6) 6
neonatal intrahepatic cholestasis caused by citrin deficiency (6) 6
patient (6) 6
phenotype (6) 6
urea - metabolism (6) 6
adult-onset citrullinemia (5) 5
aged (5) 5
amino acids - blood (5) 5
case-control studies (5) 5
citrin deficiency niccd (5) 5
citrulline (5) 5
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 08/2007, Volume 282, Issue 34, pp. 25041 - 25052
Journal Article
Nature Genetics, ISSN 1061-4036, 06/1999, Volume 22, Issue 2, pp. 159 - 163
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 12/2011, Volume 104, Issue 4, pp. 492 - 500
The citrin/mitochondrial glycerol-3-phosphate dehydrogenase (mGPD) double-knockout mouse displays phenotypic attributes of both neonatal intrahepatic... 
Sodium pyruvate | Citrin | Citrulline | Glycerol-3-phosphate | Adult-onset type II citrullinemia (CTLN2) | MEDICINE, RESEARCH & EXPERIMENTAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | MITOCHONDRIA | UREOGENESIS | HOMOZYGOUS SLC25A13 MUTATION | INBORN-ERRORS | HEPATOCELLULAR-CARCINOMA | GAS-CHROMATOGRAPHY | GLUCONEOGENESIS | LIVER | GENETICS & HEREDITY | II CITRULLINEMIA | ASPARTATE-GLUTAMATE CARRIER | Metabolomics | Mitochondria - enzymology | Gas Chromatography-Mass Spectrometry | Humans | Organic Anion Transporters - metabolism | Organic Anion Transporters - deficiency | Electrophoresis, Capillary | Organic Anion Transporters - genetics | Liver - drug effects | Urea - metabolism | Pyruvic Acid - pharmacology | Disease Models, Animal | Calcium-Binding Proteins - metabolism | Sucrose - administration & dosage | Liver - metabolism | Mice, Inbred C57BL | Ammonia - blood | Metabolome | Calcium-Binding Proteins - deficiency | Mitochondria - metabolism | Citric Acid Cycle | Mice, Knockout | Glycerolphosphate Dehydrogenase - metabolism | Animals | Glycolysis | Mice | Calcium-Binding Proteins - genetics | Glycerolphosphate Dehydrogenase - genetics | Phosphates | Niacinamide | Glycerol | Amino acids | Liquid chromatography | Glutamate | Monosaccharides | Glycerin | Hydrochloric acid | Purines | Metabolites | Ligases | Analysis | Mass spectrometry | Sugars | Index Medicus
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 12/2011, Volume 104, Issue 4, pp. 501 - 506
Journal Article
Journal of Hepatology, ISSN 0168-8278, 2008, Volume 49, Issue 5, pp. 810 - 820
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2012, Volume 107, Issue 3, pp. 322 - 329
The C57BL/6: double-knockout (a.k.a., citrin/mitochondrial glycerol 3-phosphate dehydrogenase double knockout or Ctrn/mGPD-KO) mouse displays phenotypic... 
Glycerol 3-phosphate | Citrin | Dietary supplementation | Citrin/mGPD double-knockout mice | Food intake | Body weight | MEDICINE, RESEARCH & EXPERIMENTAL | CLINICAL-PICTURES | BIOCHEMISTRY & MOLECULAR BIOLOGY | HOMOZYGOUS SLC25A13 MUTATION | ADULT-ONSET CITRULLINEMIA | HEPATOCELLULAR-CARCINOMA | THERAPY | DIET | GLUCONEOGENESIS | GENETICS & HEREDITY | II CITRULLINEMIA | MICE | ASPARTATE-GLUTAMATE CARRIER | Dietary Proteins - administration & dosage | Humans | Body Weight - drug effects | Mitochondrial Membrane Transport Proteins - genetics | Alanine - administration & dosage | Liver - drug effects | Mitochondrial Membrane Transport Proteins - deficiency | Pyruvic Acid - administration & dosage | Female | Cholestasis, Intrahepatic - complications | Disease Models, Animal | Sucrose - administration & dosage | Citrullinemia - diet therapy | Citrullinemia - metabolism | Liver - metabolism | Citrullinemia - complications | Mitochondria - metabolism | Mitochondria - drug effects | Food, Formulated | Mice, Knockout | Triglycerides - administration & dosage | Eating - drug effects | Cholestasis, Intrahepatic - metabolism | Animals | Glycerolphosphate Dehydrogenase - deficiency | Mice | Cholestasis, Intrahepatic - diet therapy | Glycerolphosphate Dehydrogenase - genetics | Sodium Glutamate - administration & dosage | Phosphates | Dietary supplements | Glycerol | Aspartate | Triglycerides | Glutamate | Weight loss maintenance | Fatty acids | Glycerin | Metabolites | Monosodium glutamate | Ligases | Analysis | Index Medicus | Alanine | Animal models | Glycerol-3-phosphate dehydrogenase | Sucrose | Starch | Liver | Amino acids | sodium pyruvate | Citric acid | Diets | Mitochondria | Lysine | citrulline | sodium glutamate
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2009, Volume 96, Issue 1, pp. 44 - 49
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 03/2015, Volume 1852, Issue 3, pp. 473 - 481
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 6/2008, Volume 53, Issue 6, pp. 534 - 545
Journal Article
Journal Article