Keywords: ترانس کربامیلاز اورنیتین; ADC; arginine decarboxylase; ADI; arginine deiminase; ADI-PEG20; ADI- polyethylene glycol 20; AIF; apoptosis-inducing factor; AMPK; AMP-activated protein kinase; Arg; arginine; ASL; argininosuccinate lyase; Asn; asparagine; ASS1; argininosuccinate synthas
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Keywords: ترانس کربامیلاز اورنیتین; Knotted protein; Protein folding; SAXS; HDX-MS; Ornithine transcarbamylase;
Keywords: ترانس کربامیلاز اورنیتین; Urea cycle disorders; Glycerol phenylbutyrate; Children; Infants; Ammonia; Glutamine; ARG1; arginase 1; ASL; argininosuccinate lyase; ASS; argininosuccinate synthetase; BMI; body mass index; BSA; body surface area; CDC; Centers for Disease Control and Pre
Keywords: ترانس کربامیلاز اورنیتین; OTC; ornithine transcarbamylase; GC-MS; gas chromatography coupled to mass spectrometry; DBS; dried blood spots; UCD; urea cycle defects; IS; internal standard; adeno-associated virus 2/serotype 8; AAV2/8; OTC; GC-MS; Dried blood spots; Orotic aciduri
Keywords: ترانس کربامیلاز اورنیتین; Arginine-catabolizing enzymes; Cellular metabolism; Combination therapy; Patient-derived GBM cell lines; Radiation; ADI; arginine deiminase; Arg; l-Arginine; ArgI; Arginase I; ASL; argininosuccinate lyase; ASS1; argininosuccinate synthetase 1; CPSI; Carba
Keywords: ترانس کربامیلاز اورنیتین; ACL; ATP citrate lyase; Akt; Protein kinase B; ASCT2; Alanine, serine, cysteine-preferring transporter 2; ASS; Argininosuccinate synthetase; BMI; Body mass index; CAF; Cancer-associated fibroblasts; ER; Estrogen receptor; FASN; Fatty acid synthase; GPC; G
Keywords: ترانس کربامیلاز اورنیتین; LPS; lipopolysaccharide; AQP; aquaporin; IMM; inner mitochondrial membranes; mtAQP8; mitochondrial aquaporin-8; CPS1; carbamyl phosphate synthetase 1; OTC; ornithine transcarbamylase; Llipopolysaccharide; Urea synthesis; Mitochondrial ammonia transport; A
Keywords: ترانس کربامیلاز اورنیتین; ASL; argininosuccinate lyase; ASS; argininosuccinate synthase; AUC0-24; 24Â hour area under the curve; GPB; glycerol phenylbutyrate (generic name for glyceryl tri (4-phenylbutyrate), also referred to as HPN-100 or RAVICTI®); NaPBA; sodium phenylbutyrat
Keywords: ترانس کربامیلاز اورنیتین; EMA; ethylmalonic acid; ETC.; electron transport chain; FAO; fatty acid oxidation; iTRAQ; isobaric tags for relative and absolute quantification; LC; liquid chromatography; MALDI-TOF/TOF; matrix assisted laser desorption ionization time of flight/time of
Keywords: ترانس کربامیلاز اورنیتین; α1AT; α-1-antitrypsin; BM-MSCs; bone-marrow mesenchymal stem cells; COX1; subunit I of the cytochrome c oxidase; COX2; subunit II of the cytochrome c oxidase; COX4; subunit IV of the cytochrome c oxidase; DRP1; dynamin-related protein 1; ECAR; extracell
Keywords: ترانس کربامیلاز اورنیتین; ALF; Acute liver failure; ALT; Alanine aminotransferase; AST; Aspartate aminotransferase; HCC; Hepatocellular carcinoma; INR; International normalized ratio; NIH; National Institutes of Health; OTC; Ornithine transcarbamylase; OTCD; Ornithine transcarbamy
Keywords: ترانس کربامیلاز اورنیتین; IV; Intravenous; LOS; Length of stay; OTC; Ornithine transcarbamylase; RDCRN; Rare Diseases Clinical Research Network; UCD; Urea cycle disorder; UCDC; Urea Cycle Disorders Consortium;
Keywords: ترانس کربامیلاز اورنیتین; ALD; Argininosuccinate lyase deficiency; ASD; Argininosuccinate synthetase deficiency; CPSD; Carbamyl phosphate synthetase 1 deficiency; DQ; Developmental quotient; FSIQ; Full-scale intelligence quotient; OTC; Ornithine transcarbamylase; OTCD; Ornithine t
SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations
Keywords: ترانس کربامیلاز اورنیتین; CD; citrin deficiency; NICCD; neonatal intrahepatic cholestasis; CTLN2; citrullinemia type 2; FTTDCD; failure to thrive and dyslipidemia; SLC25A13; solute carrier family 25 member 13; INH; idiopathic neonatal hepatitis; ALP; alkaline phosphatase; ALT; ala
AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice
Keywords: ترانس کربامیلاز اورنیتین; OTC; ornithine transcarbamylase; Het; heterozygous; UCD; urea cycle disorder; KO; knockout; AAV; adeno-associated virus; GC; genome copies; PCR; polymerase chain reaction; WT; wild type; STD; standard deviation; Liver fibrosis; OTC deficiency; AAV; Gene t
Profiles of amino acids and biogenic amines in the plasma of Cri-du-Chat patients
Keywords: ترانس کربامیلاز اورنیتین; 5-HT; serotonin; 5p; chromosome 5; AcOrn; acetyl ornitine; ADMA; dimethylarginine asymmetric; ADP; adenosine diphosphate; AGAT; glycine amidinotransferase; Ala; alanine; Alpha AAA; alpha-aminoadipic acid; Arg; arginine; ASL; argininosuccinate lyase; Asn;
Purification of a dimeric arginine deiminase from Enterococcus faecium GR7 and study of its anti-cancerous activity
Keywords: ترانس کربامیلاز اورنیتین; ADI; arginine deiminase; ASS; argininosuccinate synthetase; CK; carbamate kinase; CF; cytoplasmic fractions; DMSO; dimethylsulfoxide; GRAS; generally recognized as safe; HKC; heat-killed cells; Hep-G2; Human hepatocellular carcinoma cell line; IC50; half-
Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation
Keywords: ترانس کربامیلاز اورنیتین; 3-OH-B; 3-Hydroxy-butyrate; AcAc; Acetoacetate; BW; Bodyweight; CA VA; Carbonic anhydrase VA; CPS1; Carbamoyl phosphate synthetase 1; HSCT; Hematopoietic stem cell transplantation; NAGS; N-acetyl-glutamate synthase; NCG; N-carbamyl-glutamate; OTC; Ornithi
Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: An eight-year experience
Keywords: ترانس کربامیلاز اورنیتین; ASL; argininosuccinate lyase; ASS; argininosuccinate synthetase; CPS1; carbamoylphosphate synthetase I; HCY; homocystinuria; HPA; hyperphenylalaninemia; HPLC; high-performance liquid chromatography; IEM; inborn error of metabolism; MSUD; maple syrup urine
Early Clinical Manifestations and Eating Patterns in Patients with Urea Cycle Disorders
Keywords: ترانس کربامیلاز اورنیتین; ASL; Argininosuccinic acid lyase; ASS; Argininosuccinic acid synthetase; CPS1; Carbamoyl phosphate synthetase 1; OTC; Ornithine transcarbamylase; UCD; Urea cycle disorder;
Copy number of adenoviral vector genome transduced into target cells can be measured using quantitative PCR: Application to vector titration
Keywords: ترانس کربامیلاز اورنیتین; FG; first-generation; AdV; adenoviral vector; PFU; plaque-forming unit; TCID50; 50% tissue-culture infectious dose; CPE; cytopathic effect; qPCR; quantitative real-time PCR; HD-AdV; helper-dependent AdV; GIT; genomic infectious titer; rVT; relative vector
A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase
Keywords: ترانس کربامیلاز اورنیتین; CPS1; Carbamyl phosphate synthetase 1; NAG; N-acetyl-l-glutamate; NAGS; N-acetylglutamate synthase; NCG; N-carbamyl-l-glutamate; Cit; Citrulline; KOMP; Knock-out Mouse Project; OTC; Ornithine transcarbamylase; Hyperammonemia; Urea cycle; N-acetylglutamate
Mitochondrial aquaporin-8 knockdown in human hepatoma HepG2 cells causes ROS-induced mitochondrial depolarization and loss of viability
Keywords: ترانس کربامیلاز اورنیتین; ROS; reactive oxygen species; AQP; aquaporin; AQP8; aquaporin-8; mtAQP8; mitochondrial aquaporin-8; SCR; scrambled siRNA1 sequence; DCFH-DA; 2â²,7â²-dichlorodihydrofluorescein diacetate; TMRM; tetramethylrhodamine methyl ester; MTT; 3-(4,5-dimethyl-2-yl
Ammonium metabolism in humans
Keywords: ترانس کربامیلاز اورنیتین; NH3; ammonia; NH4+; ammonium ions; AST; aspartate aminotransferase; ALT; alanine aminotransferase; BCAT; branched-chain amino acids aminotransferase; KGA; kidney-type glutaminase; GAC; glutaminase C; GAM; glutaminase M; GDH1; glutamate dehydrogenase-1; GD
Case ReportAdult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet
Keywords: ترانس کربامیلاز اورنیتین; Atkins diet; OTC; Deficiency; OTC; ornithine transcarbamylase; CT; computed tomography; EEG; electroencephalograph; PCR; polymerase chain reaction;
Early orthotopic liver transplantation in urea cycle defects: Follow up of a developmental outcome study
Keywords: ترانس کربامیلاز اورنیتین; PND, prenatal diagnosis; NB, newborn; UCDs, urea cycle defects; OLT, orthotopic liver transplantation; CPS1, carbamoyl phosphate synthase 1; OTC, ornithine transcarbamylaseUrea cycle; Liver transplantation; Ornithine transcarbamylase; Carbamoyl phosphate
Is the ornithine transcarbamylase gene a genetic determinant of Alzheimer’s disease?
Keywords: ترانس کربامیلاز اورنیتین; Alzheimer; Ornithine transcarbamylase; Polymorphism; Association study; Urea cycle
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH
Keywords: ترانس کربامیلاز اورنیتین; Array comparative genomic hybridization; aCGH; Ornithine transcarbamylase; OTC; Ornithine transcarbamylase deficiency; OTC deletion
Recombinant human arginase inhibits proliferation of human hepatocellular carcinoma by inducing cell cycle arrest
Keywords: ترانس کربامیلاز اورنیتین; Hepatocellular carcinoma (HCC); Recombinant human arginase; Ornithine transcarbamylase; G2/M phase arrest; Combination therapy
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: A role for detailed molecular analysis in complex presentations of classical diseases
Keywords: ترانس کربامیلاز اورنیتین; Ornithine transcarbamylase; OTC; Xp11.4–Xp21.1 deletion; Granulomatous disease; Chronic; CGD; CGH; Copy number analysis; Retinitis pigmentosa; RP3; McLeod syndrome
Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency
Keywords: ترانس کربامیلاز اورنیتین; Ornithine transcarbamylase; mRNA analysis; Liver biopsy; Urea cycle defect
Contrasting features of urea cycle disorders in human patients and knockout mouse models
Keywords: ترانس کربامیلاز اورنیتین; Urea; Hyperammonemia; Knockout; N-Acetylglutamate synthase; Carbamyl phosphate synthetase I; Ornithine transcarbamylase; Argininosuccinate synthetase; Argininosuccinate lyase; Arginase
Ornithine transcarbamylase and arginase I deficiency are responsible for diminished urea cycle function in the human hepatoblastoma cell line HepG2
Keywords: ترانس کربامیلاز اورنیتین; AL; Arginosuccinate Lyase; ArgI; Arginase I; AS; Arginosuccinate Synthetase; BAL; bio-artificial liver; BCA; bicinchoninic acid; CPSI; Carbamoyl Phosphate Synthase I; 3-D; 3-dimensional; FCS; fetal calf serum; GC-MS; gas chromatography-mass spectromet
Feed Restriction Induces Pyruvate Carboxylase but not Phosphoenolpyruvate Carboxykinase in Dairy Cows*
Keywords: ترانس کربامیلاز اورنیتین; energy; glucose; liver; gene; CPS-I; carbamoyl phosphate synthetase; FR; feed restricted; OTC; ornithine transcarbamylase; PC; pyruvate carboxylase; PEPCK; phosphoenolpyruvate carboxykinase; PEPCK-C; cytosolic phophoenolpyruvate carboxykinase; PEPCK-M; mi