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citrullinemia (134) 134
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urea - metabolism (35) 35
middle aged (34) 34
organic anion transporters - deficiency (34) 34
argininosuccinate synthase - metabolism (33) 33
citrin (33) 33
citrullinemia - metabolism (32) 32
liver (32) 32
mitochondrial membrane transport proteins - genetics (32) 32
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medicine & public health (31) 31
slc25a13 (30) 30
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urea cycle disorders (30) 30
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mitochondrial proteins - genetics (28) 28
argininosuccinate synthase - deficiency (27) 27
membrane transport proteins - genetics (27) 27
niccd (27) 27
ornithine transcarbamylase deficiency (27) 27
ammonia - blood (26) 26
genetic aspects (26) 26
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adult-onset type ii citrullinemia (25) 25
aspartate-glutamate carrier (25) 25
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Nature, ISSN 0028-0836, 11/2015, Volume 527, Issue 7578, pp. 379 - 383
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 9/2016, Volume 39, Issue 5, pp. 661 - 672
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2008, Volume 94, Issue 4, pp. 397 - 402
Inherited urea cycle disorders comprise eight disorders (UCD), each caused by a deficiency of one of the proteins that is essential for ureagenesis. We report... 
Urea Cycle Disorders Consortium | Clinical research | Rare diseases network | Inborn errors of metabolism | Hyperammonemia | MEDICINE, RESEARCH & EXPERIMENTAL | inborn errors of metabolism | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHENOTYPE | rare diseases network | ALTERNATIVE PATHWAY THERAPY | INBORN-ERRORS | METABOLISM | clinical research | ORNITHINE TRANSCARBAMYLASE DEFICIENCY | GENETICS & HEREDITY | hyperammonemia | United States | Amino Acid Metabolism, Inborn Errors - physiopathology | Humans | Middle Aged | Child, Preschool | Infant | Male | Ornithine Carbamoyltransferase Deficiency Disease - metabolism | Amino Acid Metabolism, Inborn Errors - epidemiology | Ornithine Carbamoyltransferase Deficiency Disease - epidemiology | Amino Acids - metabolism | Amino Acid Metabolism, Inborn Errors - metabolism | Ethnic Groups | Aged, 80 and over | Citrullinemia | Adult | Female | Urea - metabolism | Child | Infant, Newborn | Rare Diseases - metabolism | Ornithine Carbamoyltransferase Deficiency Disease - therapy | Rare Diseases - physiopathology | Cross-Sectional Studies | Rare Diseases - epidemiology | Amino Acid Metabolism, Inborn Errors - therapy | Rare Diseases - therapy | Adolescent | Ornithine Carbamoyltransferase Deficiency Disease - physiopathology | Aged | Longitudinal Studies | Physiological aspects | Medicine, Experimental | Medical research | Urea | Medical errors | Analysis | Index Medicus
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 03/2015, Volume 1852, Issue 3, pp. 473 - 481
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
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 07/2018, Volume 103, Issue 7, pp. 2488 - 2497
Context: Citrin-deficient infants present neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), which resolves at 12 months. Thereafter, they... 
SLC25A13 GENE | OXIDATIVE STRESS | GROWTH-HORMONE | HOMOGENEOUS ASSAYS | ALZHEIMERS-DISEASE | CARBOHYDRATE-RESTRICTED DIET | ENDOCRINOLOGY & METABOLISM | II CITRULLINEMIA | BILE-ACID SYNTHESIS | HDL-CHOLESTEROL | KETOGENIC DIET | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
Journal Article
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 03/2010, Volume 25, Issue 3, pp. 352 - 358
Inherited urea cycle disorders represent one of the most common groups of inborn errors of metabolism. Late-onset urea cycle disorders caused by partial enzyme... 
Autism | Inborn errors of metabolism | Mental retardation | Attention-deficit hyperactivity disorder | attention-deficit hyperactivity disorder | inborn errors of metabolism | HYPERAMMONEMIA | PHENOTYPE | autism | CLINICAL NEUROLOGY | HETEROGENEITY | mental retardation | METABOLISM | SYNTHETASE GENE | ORNITHINE TRANSCARBAMYLASE DEFICIENCY | DISEASE | PEDIATRICS | CITRULLINEMIA | MUTATIONS | Mental Disorders - therapy | Follow-Up Studies | Humans | Mental Disorders - metabolism | Child, Preschool | Glutamine - metabolism | Male | Mental Disorders - complications | Ornithine Carbamoyltransferase Deficiency Disease - metabolism | Urea Cycle Disorders, Inborn - therapy | Urea Cycle Disorders, Inborn - complications | Adult | Female | Retrospective Studies | Ornithine Carbamoyltransferase Deficiency Disease - complications | Child | Ornithine Carbamoyltransferase Deficiency Disease - therapy | Citrullinemia - metabolism | Urea Cycle Disorders, Inborn - metabolism | Carbamoyl-Phosphate Synthase I Deficiency Disease - therapy | Treatment Outcome | Citrullinemia - complications | Citrullinemia - therapy | Adolescent | Age of Onset | Quaternary Ammonium Compounds - metabolism | Carbamoyl-Phosphate Synthase I Deficiency Disease - metabolism | Carbamoyl-Phosphate Synthase I Deficiency Disease - complications | Index Medicus
Journal Article
Developmental Brain Research, ISSN 0165-3806, 06/2003, Volume 143, Issue 1, pp. 33 - 46
Aralar1 and citrin are two isoforms of the mitochondrial carrier of aspartate-glutamate (AGC), a calcium regulated carrier, which is important in the... 
Calcium dependent mitochondrial carrier | Malate-aspartate NADH shuttle | Mitochondria | Neuron maturation | Brain development | Aspartate-glutamate carrier | brain development | calcium dependent mitochondrial carrier | mitochondria | SUBCELLULAR-LOCALIZATION | CITRIN | CYTOCHROME-OXIDASE | DEVELOPMENTAL BIOLOGY | aspartate-glutamate carrier | HIPPOCAMPAL-NEURONS | NEUROSCIENCES | MESSENGER-RNA LEVELS | GENE | malate-aspartate NADH shuttle | CALCIUM | 3-(4,5-DIMETHYLTHIAZOL-2-YL)-2,5-DIPHENYLTETRAZOLIUM BROMIDE MTT | II CITRULLINEMIA | RAT-BRAIN | neuron maturation | Blotting, Southern | Brain - embryology | Spinal Cord - drug effects | Spinal Cord - metabolism | Rats, Wistar | Calcium - metabolism | Embryo, Mammalian | Amino Acid Transport Systems, Acidic - metabolism | Stem Cells - metabolism | Organic Anion Transporters - metabolism | Brain - metabolism | Proton-Translocating ATPases - metabolism | Tissue Distribution | Mitochondrial Membrane Transport Proteins | In Situ Hybridization | Protein Isoforms - metabolism | Stem Cells - enzymology | Time Factors | Gene Expression Regulation, Developmental | Mitochondrial Proteins - metabolism | Phosphoric Monoester Hydrolases - pharmacology | Membrane Transport Proteins - metabolism | Neurons - metabolism | Lactic Acid - pharmacology | DNA, Mitochondrial - biosynthesis | Calcium-Binding Proteins - metabolism | Cell Line | Blotting, Western - methods | Glutamic Acid - pharmacology | Malates - pharmacology | Cells, Cultured | Rats | Antiporters - metabolism | Mitochondria - metabolism | Tetrazolium Salts - pharmacology | Brain - drug effects | Spinal Cord - embryology | Animals | Succinic Acid - pharmacology | Neuroglia - metabolism | Mice | Thiazoles - pharmacology | Index Medicus
Journal Article
Molecular and cellular biology, ISSN 0270-7306, 01/2004, Volume 24, Issue 2, pp. 527 - 536
Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disease caused by mutations in SLC25A13, the gene encoding the mitochondrial... 
Index Medicus
Journal Article
Journal Article