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Nature Biotechnology, ISSN 1087-0156, 03/2016, Volume 34, Issue 3, pp. 334 - 338
Many genetic liver diseases in newborns cause repeated, often lethal, metabolic crises. Gene therapy using nonintegrating viruses such as adeno-associated... 
WILD-TYPE | HEPATIC GENE-TRANSFER | TOLERANCE INDUCTION | ADENOASSOCIATED VIRUS | RHESUS-MONKEYS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | HUMAN ORNITHINE TRANSCARBAMYLASE | MOUSE-LIVER | CRISPR-CAS9 | GENOME | DELIVERY | Physiological aspects | Liver diseases | Dependoviruses | Host-virus relationships | Observations | Health aspects | Gene therapy | DNA repair | Rodents | Genomics
Journal Article
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
Molecular Therapy, ISSN 1525-0016, 03/2018, Volume 26, Issue 3, pp. 801 - 813
Journal Article
Journal Article
Molecular Therapy, ISSN 1525-0016, 07/2006, Volume 14, Issue 1, pp. 34 - 44
Journal Article
Journal Article