| 1 |
34670952 | In Silico Analysis of a De Novo OTC Variant as a Cause of Ornithine Transcarbamylase Deficiency. | 2022 Feb 1 |
2 |
| 2 |
34726276 | Late-onset of ornithine transcarbamylase deficiency: A rare medical examiner case. | 2022 Mar |
4 |
| 3 |
35087131 | Therapeutic enzyme engineering using a generative neural network. | 2022 Jan 27 |
2 |
| 4 |
35204506 | Effect of Ornithine Transcarbamylase (OTC) Deficiency on Pregnancy and Puerperium. | 2022 Feb 5 |
2 |
| 5 |
35605046 | A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia. | 2022 May 23 |
2 |
| 6 |
32949613 | Multi-omics analysis reveals that co-exposure to phthalates and metals disturbs urea cycle and choline metabolism. | 2021 Jan |
1 |
| 7 |
34015158 | Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity. | 2021 Aug |
2 |
| 8 |
34035022 | Valproate-induced fatal acute hyperammonaemia-related encephalopathy in late-onset ornithine transcarbamylase deficiency. | 2021 May 25 |
1 |
| 9 |
34059532 | Status epilepticus secondary to hyperammonaemia: a late presentation of an undiagnosed urea cycle defect. | 2021 May 31 |
1 |
| 10 |
34658931 | Ornithine Transcarbamylase - From Structure to Metabolism: An Update. | 2021 |
2 |
| 11 |
34958254 | Placental Pathology in Maternal Ornithine Transcarbamylase Deficiency. | 2021 Dec 27 |
2 |
| 12 |
34987927 | Transient Cortical Blindness in a Toddler With Heterozygous Ornithine Transcarbamylase Deficiency. | 2021 Nov |
2 |
| 13 |
31891865 | Zinc and protein metabolism in chronic liver diseases. | 2020 Feb |
1 |
| 14 |
32410394 | Clinical and genetic analysis of five Chinese patients with urea cycle disorders. | 2020 Jul |
2 |
| 15 |
32793520 | Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations. | 2020 |
1 |
| 16 |
32828733 | Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients. | 2020 Nov |
1 |
| 17 |
32995020 | Late-onset ornithine transcarbamylase deficiency: a rare cause of recurrent abnormal behavior in adults. | 2020 Jan-Dec |
2 |
| 18 |
33551825 | Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane. | 2020 |
2 |
| 19 |
27447480 | Curative Treatment of Ornithine Transcarbamylase Deficiency With a Liver Transplant: A Case Report. | 2019 Feb |
1 |
| 20 |
30370846 | Novel Biosynthesis, Metabolism and Physiological Functions of L-Homoarginine. | 2019 |
2 |
| 21 |
31177541 | AMP-activated protein kinase signaling regulated expression of urea cycle enzymes in response to changes in dietary protein intake. | 2019 Nov |
1 |
| 22 |
31784108 | Type I Interferon Signaling Disrupts the Hepatic Urea Cycle and Alters Systemic Metabolism to Suppress T Cell Function. | 2019 Dec 17 |
1 |
| 23 |
29282796 | Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene. | 2018 Apr |
2 |
| 24 |
30007405 | Urea cycle disorder presenting as bilateral mesial temporal sclerosis - an unusual cause of seizures: a case report and review of the literature. | 2018 Jul 15 |
1 |
| 25 |
30094907 | Acquired ornithine transcarbamylase deficiency in pediatric and adolescent patients with fibrolamellar hepatocellular carcinoma. | 2018 Dec |
1 |
| 26 |
30108309 | Sensitivity of Colorectal Cancer to Arginine Deprivation Therapy is Shaped by Differential Expression of Urea Cycle Enzymes. | 2018 Aug 14 |
2 |
| 27 |
30155941 | Recombinant human arginase induces apoptosis through oxidative stress and cell cycle arrest in small cell lung cancer. | 2018 Nov |
2 |
| 28 |
30541480 | Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report. | 2018 Dec 12 |
2 |
| 29 |
27891735 | Hyperammonemia in ornithine transcarbamylase-deficient recipients following living donor liver transplantation from heterozygous carrier donors. | 2017 Feb |
1 |
| 30 |
27997078 | Hiding in Plain Sight: A Case of Ornithine Transcarbamylase Deficiency Unmasked Post-Liver Transplantation. | 2017 May |
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| 31 |
28597413 | Late-onset ornithine transcarbamylase deficiency associated with hyperammonemia. | 2017 Aug |
2 |
| 32 |
26450566 | The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group. | 2016 |
1 |
| 33 |
27455801 | [Function of zinc in liver disease]. | 2016 Jul |
1 |
| 34 |
25227973 | Hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency due to a novel combined heterozygous mutations. | 2015 Mar |
1 |
| 35 |
25683148 | An Optimal Medium Supplementation Regimen for Initiation of Hepatocyte Differentiation in Human Induced Pluripotent Stem Cells. | 2015 Aug |
2 |
| 36 |
26059767 | Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update. | 2015 May 20 |
5 |
| 37 |
26210451 | Crystal structure analysis of ornithine transcarbamylase from Thermus thermophilus --HB8 provides insights on the plasticity of the active site. | 2015 Sep 18 |
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| 38 |
24122710 | Ornithine carbamoyltransferase unfolding states in the presence of urea and guanidine hydrochloride. | 2014 Jan |
2 |
| 39 |
24552868 | Cold storage of liver microorgans in ViaSpan and BG35 solutions: study of ammonia metabolism during normothermic reoxygenation. | 2014 Mar-Apr |
2 |
| 40 |
24886687 | Development of an assay to simultaneously measure orotic acid, amino acids, and acylcarnitines in dried blood spots. | 2014 Sep 25 |
1 |
| 41 |
25039902 | Diagnosis and treatment of urea cycle disorder in Japan. | 2014 Aug |
1 |
| 42 |
25056436 | HNF-4α regulates expression of human ornithin carbamoyltransferase through interaction with two positive cis-acting regulatory elements located in the proximal promoter. | 2014 |
1 |
| 43 |
25573644 | Hyperammonemic coma in a patient with late-onset OTC deficiency. | 2014 Jun 30 |
2 |
| 44 |
25759629 | Antepartum ornithine transcarbamylase deficiency. | 2014 Sep-Dec |
1 |
| 45 |
27489649 | Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy. | 2014 |
2 |
| 46 |
28324312 | Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency. | 2014 Dec |
2 |
| 47 |
23278509 | Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families. | 2013 Dec |
1 |
| 48 |
23829977 | Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management. | 2013 Jul 5 |
2 |
| 49 |
24428103 | Successful continuous venovenous hemofiltration in a neonate with hyperammonemia from ornithine transcabamylase deficiency. | 2013 Nov |
2 |
| 50 |
22054066 | Characterization of the human ornithine transcarbamylase 3' untranslated regulatory region. | 2012 Apr |
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