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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
Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2018, Volume 123, Issue 3, pp. 297 - 300
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2016, Volume 11, Issue 4, p. e0153358
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 05/2015, Volume 10, Issue 1, p. 58
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 9/2012, Volume 35, Issue 5, pp. 777 - 785
Journal Article
Clinical Chemistry, ISSN 0009-9147, 08/2017, Volume 63, Issue 8, pp. 1420 - 1422
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Journal Article
BMJ Case Reports, ISSN 1757-790X, 05/2015, Volume 2015, Issue may06 1, pp. bcr2014205592 - bcr2014205592
Journal Article
Journal Article