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humans (104) 104
index medicus (101) 101
male (62) 62
female (51) 51
citrullinemia - complications (40) 40
adult (38) 38
infant (35) 35
infant, newborn (32) 32
citrullinemia (31) 31
mutation (31) 31
pediatrics (29) 29
citrullinemia - genetics (26) 26
ii citrullinemia (26) 26
citrullinemia - diagnosis (25) 25
calcium-binding proteins - deficiency (24) 24
organic anion transporters - deficiency (24) 24
citrin deficiency (23) 23
citrullinemia - etiology (21) 21
gene (21) 21
genetics & heredity (21) 21
cholestasis, intrahepatic - etiology (19) 19
liver transplantation (18) 18
mutations (18) 18
citrulline - blood (16) 16
gastroenterology & hepatology (16) 16
hyperammonemia - etiology (16) 16
middle aged (16) 16
citrullinemia - therapy (15) 15
medicine & public health (15) 15
clinical neurology (14) 14
mitochondrial membrane transport proteins (14) 14
citrullinemia - blood (13) 13
endocrinology & metabolism (13) 13
hyperammonemia (13) 13
mitochondrial membrane transport proteins - genetics (13) 13
niccd (13) 13
ammonia - blood (12) 12
child (12) 12
medicine, research & experimental (12) 12
membrane transport proteins - genetics (12) 12
mitochondrial proteins - genetics (12) 12
slc25a13 (12) 12
urea cycle (12) 12
adolescent (11) 11
child, preschool (11) 11
fatal outcome (11) 11
infants (11) 11
internal medicine (11) 11
magnetic resonance imaging (11) 11
argininosuccinate synthetase (10) 10
calcium-binding proteins - genetics (10) 10
cholestasis, intrahepatic - genetics (10) 10
diagnosis, differential (10) 10
treatment outcome (10) 10
cholestasis (9) 9
citrin (9) 9
identification (9) 9
liver (9) 9
liver-transplantation (9) 9
organic anion transporters - genetics (9) 9
ornithine transcarbamylase deficiency (9) 9
phenotype (9) 9
protein (9) 9
surgery (9) 9
aspartate glutamate carrier (8) 8
biochemistry, general (8) 8
brain - pathology (8) 8
citrullinemia - diet therapy (8) 8
ctln2 (8) 8
metabolic diseases (8) 8
neurology (8) 8
transplantation (8) 8
abridged index medicus (7) 7
animals (7) 7
argininosuccinate synthase - genetics (7) 7
children (7) 7
citrullinemia - metabolism (7) 7
dna mutational analysis (7) 7
fatty liver - etiology (7) 7
human genetics (7) 7
urea - metabolism (7) 7
urea cycle disorder (7) 7
aged (6) 6
analysis (6) 6
aspartate-glutamate carrier (6) 6
biochemistry & molecular biology (6) 6
deficiency (6) 6
diagnosis (6) 6
encephalopathy (6) 6
heterozygote (6) 6
inborn-errors (6) 6
metabolism, inborn errors - diagnosis (6) 6
metabolism, inborn errors - genetics (6) 6
neurosciences (6) 6
proteins (6) 6
slc25a13 gene (6) 6
universities and colleges (6) 6
urea (6) 6
urea cycle disorders (6) 6
arginine - blood (5) 5
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American Journal of Pathology, The, ISSN 0002-9440, 2010, Volume 177, Issue 4, pp. 1958 - 1968
Journal Article
世界胃肠病学杂志:英文版, ISSN 1007-9327, 2017, Volume 23, Issue 44, pp. 7930 - 7938
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 11/2001, Volume 71, Issue 5, pp. 663 - 670
OBJECTIVE Adult onset type II citrullinemia is an inherited disorder of amino acid metabolism caused by a deficiency of liver specific argininosuccinate... 
Urea cycle disorder | Citrullinaemia | Hepatic encephalopathy | Liver transplantation | SURGERY | PSYCHIATRY | urea cycle disorder | ARGININOSUCCINATE SYNTHETASE | DEFICIENCY | CLINICAL NEUROLOGY | GENE | hepatic encephalopathy | UREA CYCLE | SECRETORY TRYPSIN-INHIBITOR | citrullinaemia | PATIENT | MUTATIONS | liver transplantation | Brain - diagnostic imaging | Citrullinemia - diagnosis | Humans | Middle Aged | Tomography, Emission-Computed, Single-Photon | Male | Tomography, X-Ray Computed | Electroencephalography | Brain - metabolism | Consciousness Disorders - etiology | Liver Transplantation - methods | Cognition Disorders - etiology | Brain Edema - diagnosis | Adult | Female | Hepatic Encephalopathy - etiology | Citrulline - blood | Severity of Illness Index | Citrullinemia - surgery | Consciousness Disorders - diagnosis | Hepatic Encephalopathy - surgery | Brain Edema - etiology | Ammonia - blood | Treatment Outcome | Citrullinemia - complications | Coma - diagnosis | Neuropsychological Tests | Cognition Disorders - diagnosis | Magnetic Resonance Imaging | Adolescent | Brain - pathology | Coma - etiology | Metabolism, Inborn errors of | Care and treatment | Transplantation | Liver | Proteins | Ammonia | Enzymes | Transplants & implants | Diet | Laboratories | Brain damage | Amino acids | Mutation | Liver cirrhosis | Metabolic disorders | Index Medicus | Papers
Journal Article
Journal of Hepatology, ISSN 0168-8278, 2008, Volume 49, Issue 5, pp. 810 - 820
Journal Article
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 03/2015, Volume 1852, Issue 3, pp. 473 - 481
Journal Article
Journal Article