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citrin deficiency (121) 121
humans (111) 111
index medicus (75) 75
ii citrullinemia (61) 61
male (60) 60
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citrin (57) 57
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gene (45) 45
citrullinemia - genetics (42) 42
genetics & heredity (42) 42
mutations (39) 39
calcium-binding proteins - deficiency (37) 37
medicine, research & experimental (37) 37
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organic anion transporters - deficiency (36) 36
identification (35) 35
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niccd (32) 32
slc25a13 gene (31) 31
adult (30) 30
adult-onset type ii citrullinemia (30) 30
aspartate-glutamate carrier (29) 29
citrullinemia (29) 29
mitochondrial membrane transport proteins - genetics (29) 29
mitochondrial membrane transport proteins (27) 27
neonatal intrahepatic cholestasis caused by citrin deficiency (27) 27
urea cycle (27) 27
gastroenterology & hepatology (26) 26
argininosuccinate synthetase (25) 25
biochemistry & molecular biology (25) 25
pediatrics (25) 25
liver (23) 23
liver-transplantation (23) 23
citrullinemia - complications (22) 22
membrane transport proteins - genetics (22) 22
mitochondrial proteins - genetics (22) 22
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cholestasis (21) 21
cholestasis, intrahepatic - genetics (21) 21
ctln2 (21) 21
hyperammonemia (21) 21
aspartate glutamate carrier (19) 19
frequency (19) 19
medicine, general & internal (19) 19
neonatal intrahepatic cholestasis (19) 19
analysis (18) 18
calcium-binding proteins - genetics (17) 17
citrullinemia - diagnosis (17) 17
infants (16) 16
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citrullinemia - metabolism (15) 15
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organic anion transporters - genetics (15) 15
dna mutational analysis (14) 14
ii citrullinemia ctln2 (14) 14
diagnosis (13) 13
endocrinology & metabolism (13) 13
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secretory trypsin-inhibitor (11) 11
transplantation (11) 11
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glutamate (9) 9
inborn-errors (9) 9
jaundice, obstructive (9) 9
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Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2015, Volume 114, Issue 1, pp. 1 - 10
Inborn errors of metabolism (IEMs) are a group of genetic diseases that have protean clinical manifestations and can involve several organ systems. The age of... 
HFE-associated hemochromatosis | Alpha-1 antitrypsin deficiency | Inborn errors of metabolism | Wilson disease | Citrin deficiency | CITRIN DEFICIENCY NICCD | WEGENERS-GRANULOMATOSIS | MEDICINE, RESEARCH & EXPERIMENTAL | HEPATOLENTICULAR-DEGENERATION | ALPHA-ANTITRYPSIN DEFICIENCY | WILSON-DISEASE GENE | HEREDITARY HEMOCHROMATOSIS | ARGININOSUCCINATE SYNTHETASE | HEPATIC IRON OVERLOAD | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | II CITRULLINEMIA CTLN2 | ALPHA-1-ANTITRYPSIN DEFICIENCY | Hemochromatosis Protein | Humans | Hepatolenticular Degeneration - diagnosis | Hepatolenticular Degeneration - physiopathology | Metabolism, Inborn Errors - therapy | Organic Anion Transporters - deficiency | Adult | Child | Hemochromatosis - genetics | alpha 1-Antitrypsin Deficiency - genetics | Hemochromatosis - therapy | alpha 1-Antitrypsin Deficiency - therapy | Membrane Proteins - genetics | Calcium-Binding Proteins - deficiency | Histocompatibility Antigens Class I - genetics | Metabolism, Inborn Errors - genetics | alpha 1-Antitrypsin Deficiency - diagnosis | Metabolism, Inborn Errors - diagnosis | alpha 1-Antitrypsin Deficiency - physiopathology | Liver Diseases - diagnosis | Hepatolenticular Degeneration - genetics | Hemochromatosis - diagnosis | Liver Diseases - physiopathology | Metabolism, Inborn Errors - physiopathology | Hemochromatosis - physiopathology | Metabolism, Inborn errors of | Physiological aspects | Adults | Liver diseases
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 02/2011, Volume 157, Issue 1, pp. 3 - 32
This review covers briefly the major conditions, genetic and non‐genetic, sometimes leading to abnormally elevated methionine, with emphasis on recent... 
adenosyltransferase | homocysteine | hypermethioninemia | methyltransferase | disease | prematurity | citrin | liver | tyrosinemia type I | low‐birth‐weight | fumarylacetoacetate | S‐adenosylmethionine | deficiency | methionine | glycine | S‐adenosylhomocysteine | hydrolase | homocystinuria | cystathionine beta‐synthase | Tyrosinemia type I | Disease | Hydrolase | Low-birth-weight | Cystathionine beta-synthase | Deficiency | Liver | Methionine | Methyltransferase | S-adenosylhomocysteine | Glycine | S-adenosylmethionine | Hypermethioninemia | Homocystinuria | Prematurity | Fumarylacetoacetate | Citrin | Adenosyltransferase | Homocysteine | low-birth-weight | PYRIDOXINE-NONRESPONSIVE HOMOCYSTINURIA | ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY | GENETICS & HEREDITY | cystathionine beta-synthase | GLYCINE N-METHYLTRANSFERASE | S-ADENOSYLMETHIONINE SYNTHETASE | ADENOSYL-L-METHIONINE | TYROSINEMIA TYPE-I | NEONATAL INTRAHEPATIC CHOLESTASIS | METHIONINE ADENOSYLTRANSFERASE-I/III | ASPARTATE GLUTAMATE CARRIER | Methionine - blood | Glycine N-Methyltransferase - genetics | Humans | Glycine N-Methyltransferase - deficiency | Neonatal Screening | Amino Acid Metabolism, Inborn Errors - diagnosis | Methionine Adenosyltransferase - genetics | Tyrosinemias - diagnosis | Cystathionine beta-Synthase - deficiency | Mitochondrial Diseases - complications | Organic Anion Transporters - deficiency | Adenosylhomocysteinase - deficiency | Organic Anion Transporters - genetics | Amino Acid Metabolism, Inborn Errors - genetics | Adenosylhomocysteinase - genetics | Methionine Adenosyltransferase - deficiency | Liver Diseases - complications | Female | Cystathionine beta-Synthase - genetics | Infant, Newborn | Liver Diseases - blood | Mitochondrial Diseases - genetics | Diagnosis, Differential | Tyrosinemias - therapy | cis-trans-Isomerases - deficiency | Calcium-Binding Proteins - deficiency | Tyrosinemias - genetics | Amino Acid Metabolism, Inborn Errors - therapy | cis-trans-Isomerases - genetics | Liver Diseases - metabolism | Mitochondrial Diseases - diagnosis | Calcium-Binding Proteins - genetics | Liver diseases | Isoenzymes | cbs gene | Methionine adenosyltransferase | S-Adenosylmethionine | Mitochondria | Reviews | Differential diagnosis | Mutation | Catalytic subunits
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 07/2019, Volume 127, Issue 3, pp. 175 - 183
Journal Article