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index medicus (228) 228
humans (220) 220
female (130) 130
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citrullinemia (100) 100
genetics & heredity (92) 92
citrullinemia - genetics (82) 82
ii citrullinemia (82) 82
mutation (79) 79
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hyperammonemia (47) 47
identification (47) 47
pediatrics (47) 47
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slc25a13 (42) 42
argininosuccinate synthase - genetics (40) 40
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biochemistry & molecular biology (39) 39
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organic anion transporters - deficiency (39) 39
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mitochondrial membrane transport proteins - genetics (37) 37
middle aged (35) 35
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adult-onset type ii citrullinemia (32) 32
child, preschool (32) 32
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liver (32) 32
liver-transplantation (31) 31
genetic aspects (30) 30
membrane transport proteins - genetics (30) 30
mice (30) 30
mitochondrial proteins - genetics (30) 30
child (29) 29
gastroenterology & hepatology (29) 29
aspartate-glutamate carrier (27) 27
endocrinology & metabolism (27) 27
medicine & public health (26) 26
arginine (25) 25
argininosuccinate synthase - metabolism (25) 25
citrullinemia - metabolism (25) 25
diagnosis (25) 25
metabolism (25) 25
dna mutational analysis (24) 24
internal medicine (24) 24
urea (24) 24
cholestasis (23) 23
deficiency (23) 23
medicine, general & internal (23) 23
slc25a13 gene (23) 23
therapy (22) 22
urea cycle disorders (22) 22
calcium-binding proteins - genetics (21) 21
cholestasis, intrahepatic - genetics (21) 21
citrullinemia - therapy (21) 21
classical citrullinemia (21) 21
frequency (21) 21
metabolic diseases (21) 21
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urea - metabolism (21) 21
base sequence (20) 20
citrullinemia - blood (20) 20
citrullinemia - pathology (20) 20
ctln2 (20) 20
ammonia (19) 19
ammonia - blood (19) 19
aspartate glutamate carrier (19) 19
ligases (19) 19
molecular sequence data (19) 19
ornithine transcarbamylase deficiency (19) 19
transplantation (19) 19
citrulline (18) 18
neonatal intrahepatic cholestasis (18) 18
age of onset (17) 17
argininosuccinate synthase - deficiency (17) 17
diagnosis, differential (17) 17
encephalopathy (17) 17
liver transplantation (17) 17
messenger-rna (17) 17
mutation - genetics (17) 17
mutation, missense (17) 17
research (17) 17
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asian continental ancestry group - genetics (16) 16
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Journal Article
Endocrinology and Metabolism(구 대한내분비학회지), ISSN 2093-596X, 2006, Volume 21, Issue 6, p. 542
의식변화가 동반된 지속되는 고암모니아혈증을 주소로 내원하여 SLC25A13 유전자 분석에 의해 돌연변이가 확인된 성인형 제Ⅱ형 citrullinemia 1예를 경험하였기에 보고하는 바이다. 
SLC25A13 gene mutation | Adult onset type 2 citrullinemia | Hyperammonemia
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 03/2015, Volume 1852, Issue 3, pp. 473 - 481
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 05/2001, Volume 138, Issue 5, pp. 741 - 743
We describe 2 patients with adult-onset type II citrullinemia who developed transient hypoproteinemia and jaundice in early infancy. Liver histology showed a... 
Citrullinemia - genetics | Citrullinemia - diagnosis | Liver - pathology | Fatty Liver - pathology | Humans | Child, Preschool | Genotype | Male | Point Mutation | Biopsy | Adolescent | Polymerase Chain Reaction | Female | Citrullinemia - pathology | Index Medicus | Abridged Index Medicus
Journal Article
Liver Transplantation, ISSN 1527-6465, 04/2004, Volume 10, Issue 4, pp. 550 - 554
More than 20 patients with adult‐onset type II citrullinemia have undergone liver transplantation, showing dramatic therapeutic effects. In Japan, living donor... 
SURGERY | FAMILIAL AMYLOID POLYNEUROPATHY | UREA CYCLE | DISORDERS | GASTROENTEROLOGY & HEPATOLOGY | DEFICIENCY | TRANSPLANTATION | Citrullinemia - surgery | Liver Transplantation - methods | Humans | Adult | Female | Male | Treatment Outcome | Living Donors | Feasibility Studies | Index Medicus
Journal Article
Indian Pediatrics, ISSN 0019-6061, 10/2013, Volume 50, Issue 10, pp. 965 - 966
Citrullinemia type 1 was diagnosed by tandem mass spectrometry in a full term male neonate who presented with an acute catastrophic collapse on the 3rd day of... 
Pediatrics | Newborn | Prenatal diagnosis | Medicine & Public Health | Argininosuccinate synthetase gene | Citrullinemia | Maternal and Child Health | Pediatric Surgery | UREA CYCLE DISORDERS | PEDIATRICS | Pregnancy | Pregnant women | Ligases | Mass spectrometry
Journal Article
Hepatology Research, ISSN 1386-6346, 2003, Volume 26, Issue 1, pp. 68 - 72
Case 1 is a 37-year-old Japanese man who was admitted to this hospital with a disturbance of consciousness. A diagnosis of adult-onset type II citrullinemia... 
Arginine | Aspartate/glutamate carrier | Adult-onset type II citrullinemia | aspartate/glutamate carrier | arginine | GENE | GASTROENTEROLOGY & HEPATOLOGY | adult-onset type II citrullinemia
Journal Article
Rinsho shinkeigaku = Clinical neurology, ISSN 0009-918X, 10/1999, Volume 39, Issue 10, p. 1049
We reported a case of adult-onset citrullinemia associated with hypertrigliceridemia and diabetes mellitus. A 24-year-old female was healthy until recently.... 
Liver Transplantation | Diabetes Complications | Humans | Middle Aged | Fatty Liver - complications | Male | Treatment Outcome | Pancreatitis - complications | Citrullinemia - therapy | Citrullinemia - etiology | Hypertriglyceridemia - complications | Adult | Female | Tissue Donors | Chronic Disease
Journal Article
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