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Clinical Chemistry and Laboratory Medicine (CCLM), ISSN 1434-6621, 07/2017, Volume 55, Issue 8, pp. 1168 - 1177
Background: Liver enzymes are released from hepatocytes into circulation and their activity can be measured in the blood. We examined whether the plasma... 
inborn errors of metabolism | liquid chromatography-mass spectrometry (LC-MS/MS) | enzyme deficiency | ornithine carbamoyltransferase (OTC) | urea cycle | HUMAN-SERUM | TRANSCARBAMYLASE DEFICIENCY | INJURY | UREA CYCLE DISORDERS | CARBAMYLTRANSFERASE | STABLE-ISOTOPES | PLASMA | UREAGENESIS | TISSUES | MEDICAL LABORATORY TECHNOLOGY | TRANSFERASE-ACTIVITY | Chromosomes, Human, X - genetics | Liver - enzymology | Ornithine Carbamoyltransferase - blood | Humans | Enzyme Stability | Enzyme Assays - methods | Linear Models | Male | Calibration | Ornithine Carbamoyltransferase - genetics | Tandem Mass Spectrometry | Chromatography, Liquid | Ornithine Carbamoyltransferase Deficiency Disease - diagnosis | Female | Heterozygote | Ornithine Carbamoyltransferase - metabolism | Mutation | Ornithine Carbamoyltransferase Deficiency Disease - blood | Ornithine Carbamoyltransferase Deficiency Disease - enzymology | Cohort Studies | Plasma | Inborn errors of metabolism | Liver | Heterozygotes | Assaying | Blood | Water analysis | Diagnosis | Permissible error | Enzymes | Alanine | Mass spectroscopy | Liquid chromatography | Citrulline | Metabolism | Patients | Ornithine carbamoyltransferase | Urea | Blood circulation | Hepatocytes | Alanine transaminase | Error detection | Aspartate aminotransferase | Differentiation | Ornithine | Mass spectrometry
Journal Article
Cell, ISSN 0092-8674, 09/2018, Volume 174, Issue 6, pp. 1559 - 1570.e22
The urea cycle (UC) is the main pathway by which mammals dispose of waste nitrogen. We find that specific alterations in the expression of most UC enzymes... 
cancer metabolism | pyrimidines | urea cycle | mutagenesis | CAD | immunotherapy | CTLA-4 BLOCKADE | HEPATOCELLULAR-CARCINOMA | OROTIC-ACID | BIOCHEMISTRY & MOLECULAR BIOLOGY | PATIENT | PYRIMIDINE SYNTHESIS | IDENTIFICATION | CANCER | BINDING | PROGRESSION | PREDICTION | CELL BIOLOGY | Neoplasms - metabolism | Metabolomics | TOR Serine-Threonine Kinases - metabolism | Dihydroorotase - genetics | Aspartate Carbamoyltransferase - metabolism | Genomics | Humans | Ornithine Carbamoyltransferase - genetics | Pyrimidines - biosynthesis | Ornithine Carbamoyltransferase - antagonists & inhibitors | Pyrimidines - chemistry | TOR Serine-Threonine Kinases - antagonists & inhibitors | RNA Interference | Female | Ornithine Carbamoyltransferase - metabolism | Urea - metabolism | Dihydroorotase - metabolism | Phosphorylation - drug effects | Aspartate Carbamoyltransferase - genetics | Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing) - metabolism | Mice, Inbred C57BL | Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing) - genetics | Mice, SCID | Sirolimus - pharmacology | Animals | Cell Line, Tumor | Mice | Amino Acid Transport Systems, Basic - metabolism | Neoplasms - pathology | RNA, Small Interfering - metabolism | Urea | Pyrimidines | Metabolites | Immunotherapy | Refuse and refuse disposal | Resveratrol | Physiological aspects | Nucleotides
Journal Article
Journal Article
Molecular Therapy, ISSN 1525-0016, 03/2018, Volume 26, Issue 3, pp. 801 - 813
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
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2015, Volume 10, Issue 2, p. e0116594
Journal Article
Proteins: Structure, Function, and Bioinformatics, ISSN 0887-3585, 05/2012, Volume 80, Issue 5, pp. 1436 - 1447
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Journal Article
Journal Article