urea has been researched along with Urea Cycle Disorders, Inborn in 36 studies
pseudourea: clinical use; structure
isourea : A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives.
Urea Cycle Disorders, Inborn: Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.
| Excerpt | Relevance | Reference |
|---|---|---|
| " Urea cycle disorders with hyperammonemia remain difficult to treat and eventually necessitate liver transplantation." | 8.12 | Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model. ( Burczynski, ME; Chen, H; Cheng, X; Halasz, G; Kim, S; Lin, AZ; Mao, X; Murphy, AJ; Na, E; Okamoto, H; Sleeman, MW, 2022) |
| "Children with urea cycle disorders (UCDs) or organic acidemias (OAs) and acute hyperammonemia and encephalopathy are at great risk for neurological injury, developmental delay, intellectual disability, and death." | 7.79 | Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias. ( Baumgart, S; Cook, N; Dimmock, D; Lichter-Konecki, U; Meyer, MT; Moudgil, A; Nadkarni, V; Poeschl, J, 2013) |
| "The urea cycle disorders are a group of inherited biochemical diseases caused by a complete or partial deficiency of any one of the enzymes or transport proteins required to convert toxic ammonia into urea and to produce arginine and citrulline." | 6.58 | Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders. ( Mew, NA; Summar, ML, 2018) |
| "Chronic inflammation is linked to diverse disease processes, but the intrinsic mechanisms that determine cellular sensitivity to inflammation are incompletely understood." | 5.56 | Glucose-dependent partitioning of arginine to the urea cycle protects β-cells from inflammation. ( Alvarez-Perez, JC; Avizonis, D; Badur, MG; Bird, GH; Bridon, G; Choi, DW; Danial, NN; Dhe-Paganon, S; Evans, L; Ficarro, SB; Fu, A; Garcia-Ocana, A; James Shapiro, AM; Jones, RG; Kamphorst, JJ; Karakose, E; Kin, T; Marto, JA; Rosselot, C; Seo, HS; Stewart, AF; Walensky, LD, 2020) |
| " Urea cycle disorders with hyperammonemia remain difficult to treat and eventually necessitate liver transplantation." | 4.12 | Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model. ( Burczynski, ME; Chen, H; Cheng, X; Halasz, G; Kim, S; Lin, AZ; Mao, X; Murphy, AJ; Na, E; Okamoto, H; Sleeman, MW, 2022) |
| "Children with urea cycle disorders (UCDs) or organic acidemias (OAs) and acute hyperammonemia and encephalopathy are at great risk for neurological injury, developmental delay, intellectual disability, and death." | 3.79 | Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias. ( Baumgart, S; Cook, N; Dimmock, D; Lichter-Konecki, U; Meyer, MT; Moudgil, A; Nadkarni, V; Poeschl, J, 2013) |
| " No statistically significant differences were observed in plasma phenylacetic acid and PAGN exposure during dosing with GPB vs." | 2.76 | Ammonia control in children with urea cycle disorders (UCDs); phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate. ( Beliveau, M; Diaz, GA; Dickinson, K; Feigenbaum, A; Jomphe, C; Lichter-Konecki, U; Marier, JF; Martinez, A; Mauney, J; Merritt, JL; Mokhtarani, M; Rhead, W; Scharschmidt, B, 2011) |
| "The urea cycle disorders are a group of inherited biochemical diseases caused by a complete or partial deficiency of any one of the enzymes or transport proteins required to convert toxic ammonia into urea and to produce arginine and citrulline." | 2.58 | Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders. ( Mew, NA; Summar, ML, 2018) |
| "ARG1-deficient patients exhibit hyperargininemia with spastic paraparesis, progressive neurological and intellectual impairment, persistent growth retardation, and infrequent episodes of hyperammonemia, a clinical pattern that differs strikingly from other urea cycle disorders." | 2.52 | Arginase-1 deficiency. ( Baron, G; Funk, CD; Schulze, A; Sin, YY, 2015) |
| "Gene therapy for OTC deficiency is effective in animals, and work is ongoing to improve persistence and safety." | 2.45 | Ammonia toxicity and its prevention in inherited defects of the urea cycle. ( Walker, V, 2009) |
| " Four Phase 1 studies were conducted to characterize the bioavailability (BA) and/or bioequivalence (BE) of ACER-001 (in healthy volunteers) and taste assessment relative to NaPBA powder (in taste panelists)." | 1.91 | Taste-masked formulation of sodium phenylbutyrate (ACER-001) for the treatment of urea cycle disorders. ( Cederbaum, SD; Edwards, J; Kellmeyer, T; Peters, Y; Steiner, RD, 2023) |
| " Users rated the test as "often helpful" for ruling out PAA toxicity (44%), informing PB dosing decisions (42%), and assessing adherence (28%)." | 1.72 | Perceptions and use of phenylbutyrate metabolite testing in urea cycle disorders: Results of a clinician survey and analysis of a centralized testing database. ( Burdett, A; Ficicioglu, C; Hata, A; Liu, N; Porter, M; Sun, Q; Sutton, VR, 2022) |
| "Chronic inflammation is linked to diverse disease processes, but the intrinsic mechanisms that determine cellular sensitivity to inflammation are incompletely understood." | 1.56 | Glucose-dependent partitioning of arginine to the urea cycle protects β-cells from inflammation. ( Alvarez-Perez, JC; Avizonis, D; Badur, MG; Bird, GH; Bridon, G; Choi, DW; Danial, NN; Dhe-Paganon, S; Evans, L; Ficarro, SB; Fu, A; Garcia-Ocana, A; James Shapiro, AM; Jones, RG; Kamphorst, JJ; Karakose, E; Kin, T; Marto, JA; Rosselot, C; Seo, HS; Stewart, AF; Walensky, LD, 2020) |
| "Hyperammonemia was diagnosed in all cases during the evaluation of altered mental status, with 22% presenting with seizures." | 1.56 | A retrospective study of adult patients with noncirrhotic hyperammonemia. ( Baker, JJ; Barkoudah, E; Berry, GT; Khoury, CC; Krier, JB; Lin, AP; Mogensen, KM; Peake, RW; Sahai, I; Stergachis, AB; Sweetser, DA, 2020) |
| "The proportion of females with ornithine transcarbamylase deficiency (fOTC-D), particularly those being asymptomatic (asfOTC-D), was higher in the NA than in the EU sample." | 1.51 | Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases. ( Batshaw, ML; Baumgartner, MR; Boy, N; Burgard, P; Burlina, AB; de Lonlay, P; Dionisi-Vici, C; Dobbelaere, D; Garbade, SF; Garcia-Cazorla, A; Hoffmann, GF; Kölker, S; McCandless, SE; Mew, NA; Posset, R; Seminara, J; Summar, M; Teles, EL; Vara, R, 2019) |
| "The most common UCD was ornithine transcarbamylase deficiency (OTCD), which accounted for 116 out of 177 patients." | 1.38 | Long-term outcome and intervention of urea cycle disorders in Japan. ( Endo, F; Horikawa, R; Kasahara, M; Kido, J; Matsuo, M; Mitsubuchi, H; Nakamura, K; Ohura, T; Shigematsu, Y; Takayanagi, M; Yorifuji, T; Yoshino, M, 2012) |
| "Creatine synthesis is a major component of arginine metabolism, amounting to more than 20% of the dietary intake of this amino acid." | 1.36 | Creatine metabolism and the urea cycle. ( Brosnan, JT; Brosnan, ME, 2010) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (2.78) | 29.6817 |
| 2010's | 23 (63.89) | 24.3611 |
| 2020's | 12 (33.33) | 2.80 |
| Authors | Studies |
|---|---|
| Hajaj, E | 1 |
| Sciacovelli, M | 1 |
| Frezza, C | 1 |
| Erez, A | 1 |
| Ficicioglu, C | 1 |
| Liu, N | 1 |
| Sun, Q | 3 |
| Burdett, A | 1 |
| Hata, A | 1 |
| Porter, M | 1 |
| Sutton, VR | 3 |
| Mao, X | 1 |
| Chen, H | 1 |
| Lin, AZ | 1 |
| Kim, S | 1 |
| Burczynski, ME | 1 |
| Na, E | 1 |
| Halasz, G | 1 |
| Sleeman, MW | 1 |
| Murphy, AJ | 1 |
| Okamoto, H | 1 |
| Cheng, X | 1 |
| Siri, B | 1 |
| Olivieri, G | 1 |
| Angeloni, A | 1 |
| Cairoli, S | 1 |
| Carducci, C | 1 |
| Cotugno, G | 1 |
| Di Michele, S | 1 |
| Giovanniello, T | 1 |
| La Marca, G | 1 |
| Lepri, FR | 1 |
| Novelli, A | 1 |
| Rossi, C | 1 |
| Semeraro, M | 1 |
| Dionisi-Vici, C | 3 |
| Lopes, FF | 1 |
| Lamberty Faverzani, J | 1 |
| Hammerschmidt, T | 1 |
| Aguilar Delgado, C | 1 |
| Ferreira de Oliveira, J | 1 |
| Wajner, M | 1 |
| Regla Vargas, C | 1 |
| Cederbaum, SD | 1 |
| Edwards, J | 1 |
| Kellmeyer, T | 1 |
| Peters, Y | 1 |
| Steiner, RD | 1 |
| Imbard, A | 1 |
| Bouchereau, J | 1 |
| Arnoux, JB | 1 |
| Brassier, A | 2 |
| Schiff, M | 2 |
| Bérat, CM | 1 |
| Pontoizeau, C | 1 |
| Benoist, JF | 1 |
| Josse, C | 1 |
| Montestruc, F | 1 |
| de Lonlay, P | 2 |
| Sacchini, M | 1 |
| Procopio, E | 1 |
| Pochiero, F | 1 |
| Scaturro, G | 1 |
| Daniotti, M | 1 |
| Donati, MA | 1 |
| Fu, A | 1 |
| Alvarez-Perez, JC | 1 |
| Avizonis, D | 1 |
| Kin, T | 1 |
| Ficarro, SB | 1 |
| Choi, DW | 1 |
| Karakose, E | 1 |
| Badur, MG | 1 |
| Evans, L | 1 |
| Rosselot, C | 1 |
| Bridon, G | 1 |
| Bird, GH | 1 |
| Seo, HS | 1 |
| Dhe-Paganon, S | 1 |
| Kamphorst, JJ | 1 |
| Stewart, AF | 1 |
| James Shapiro, AM | 1 |
| Marto, JA | 1 |
| Walensky, LD | 1 |
| Jones, RG | 1 |
| Garcia-Ocana, A | 1 |
| Danial, NN | 1 |
| Stergachis, AB | 1 |
| Mogensen, KM | 1 |
| Khoury, CC | 1 |
| Lin, AP | 1 |
| Peake, RW | 1 |
| Baker, JJ | 1 |
| Barkoudah, E | 1 |
| Sahai, I | 1 |
| Sweetser, DA | 1 |
| Berry, GT | 1 |
| Krier, JB | 1 |
| Nitzahn, M | 1 |
| Lipshutz, GS | 1 |
| Sonaimuthu, P | 1 |
| Senkevitch, E | 1 |
| Haskins, N | 1 |
| Uapinyoying, P | 1 |
| McNutt, M | 1 |
| Morizono, H | 1 |
| Tuchman, M | 1 |
| Caldovic, L | 1 |
| Jiang, Y | 1 |
| Almannai, M | 1 |
| Elsea, SH | 2 |
| Meyburg, J | 2 |
| Opladen, T | 2 |
| Spiekerkötter, U | 1 |
| Schlune, A | 1 |
| Schenk, JP | 1 |
| Schmidt, J | 1 |
| Weitz, J | 1 |
| Okun, J | 1 |
| Bürger, F | 1 |
| Omran, TB | 1 |
| Abdoh, G | 1 |
| Al Rifai, H | 1 |
| Monavari, A | 1 |
| Konstantopoulou, V | 1 |
| Kölker, S | 3 |
| Yudkoff, M | 2 |
| Hoffmann, GF | 3 |
| Summar, ML | 1 |
| Mew, NA | 2 |
| Nagamani, SCS | 2 |
| Agarwal, U | 1 |
| Tam, A | 1 |
| Azamian, M | 1 |
| McMeans, A | 1 |
| Didelija, IC | 1 |
| Mohammad, MA | 1 |
| Marini, JC | 1 |
| Burrage, LC | 1 |
| Thistlethwaite, L | 1 |
| Stroup, BM | 1 |
| Miller, MJ | 1 |
| Craigen, W | 1 |
| Scaglia, F | 1 |
| Graham, B | 1 |
| Kennedy, AD | 1 |
| Milosavljevic, A | 1 |
| Lee, BH | 1 |
| Soria, LR | 2 |
| Brunetti-Pierri, N | 2 |
| Posset, R | 2 |
| Garbade, SF | 1 |
| Boy, N | 1 |
| Burlina, AB | 2 |
| Dobbelaere, D | 2 |
| Garcia-Cazorla, A | 2 |
| Teles, EL | 2 |
| Vara, R | 2 |
| Batshaw, ML | 1 |
| Baumgartner, MR | 1 |
| McCandless, SE | 1 |
| Seminara, J | 1 |
| Summar, M | 1 |
| Burgard, P | 3 |
| Ninković, D | 1 |
| Mustapić, Ž | 1 |
| Bartoniček, D | 1 |
| Benjak, V | 1 |
| Ćuk, M | 1 |
| Buljević, AD | 1 |
| Grčić, BF | 1 |
| Fumić, K | 1 |
| Grizelj, R | 1 |
| Lehman, I | 1 |
| Ramadža, DP | 1 |
| Sarnavka, V | 1 |
| Slaviček, J | 1 |
| Kastelić, JS | 1 |
| Barišić, N | 1 |
| Barić, I | 1 |
| Ah Mew, N | 1 |
| Lichter-Konecki, U | 2 |
| Nadkarni, V | 1 |
| Moudgil, A | 1 |
| Cook, N | 1 |
| Poeschl, J | 1 |
| Meyer, MT | 1 |
| Dimmock, D | 1 |
| Baumgart, S | 1 |
| Helman, G | 1 |
| Pacheco-Colón, I | 1 |
| Gropman, AL | 1 |
| MacLeod, EL | 1 |
| Hall, KD | 1 |
| McGuire, PJ | 1 |
| Sin, YY | 1 |
| Baron, G | 1 |
| Schulze, A | 1 |
| Funk, CD | 1 |
| Lindner, M | 1 |
| Das, AM | 1 |
| Marquardt, T | 1 |
| Khan, A | 1 |
| Emre, SH | 1 |
| Burton, BK | 1 |
| Barshop, BA | 1 |
| Böhm, T | 1 |
| Zangerl, K | 1 |
| Mayorandan, S | 1 |
| Dürr, UH | 1 |
| Rosenkranz, B | 1 |
| Rennecke, J | 1 |
| Derbinski, J | 1 |
| Anstey, JR | 1 |
| Haydon, TP | 1 |
| Ghanpur, RB | 1 |
| de Jong, G | 1 |
| Valayannopoulos, V | 1 |
| Cortès-Saladelafont, E | 1 |
| Couce, ML | 1 |
| Sykut-Cegielska, J | 1 |
| Häberle, J | 1 |
| Lund, AM | 1 |
| Chakrapani, A | 1 |
| Walter, JH | 1 |
| Zeman, J | 1 |
| Açıkalın, A | 1 |
| Dişel, NR | 1 |
| Walker, V | 2 |
| Bonora-Centelles, A | 1 |
| Donato, MT | 1 |
| Lahoz, A | 1 |
| Pareja, E | 1 |
| Mir, J | 1 |
| Castell, JV | 1 |
| Gómez-Lechón, MJ | 1 |
| Brosnan, JT | 1 |
| Brosnan, ME | 1 |
| Diaz, GA | 1 |
| Merritt, JL | 1 |
| Feigenbaum, A | 1 |
| Jomphe, C | 1 |
| Marier, JF | 1 |
| Beliveau, M | 1 |
| Mauney, J | 1 |
| Dickinson, K | 1 |
| Martinez, A | 1 |
| Mokhtarani, M | 1 |
| Scharschmidt, B | 1 |
| Rhead, W | 1 |
| Kido, J | 1 |
| Nakamura, K | 1 |
| Mitsubuchi, H | 1 |
| Ohura, T | 1 |
| Takayanagi, M | 1 |
| Matsuo, M | 1 |
| Yoshino, M | 1 |
| Shigematsu, Y | 1 |
| Yorifuji, T | 1 |
| Kasahara, M | 1 |
| Horikawa, R | 1 |
| Endo, F | 1 |
| Krauss, M | 1 |
| Schaller, S | 1 |
| Borchers, S | 1 |
| Findeisen, R | 1 |
| Lippert, J | 1 |
| Kuepfer, L | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Longitudinal Study of Urea Cycle Disorders[NCT00237315] | 1,009 participants (Anticipated) | Observational | 2006-02-28 | Recruiting | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
8 reviews available for urea and Urea Cycle Disorders, Inborn
| Article | Year |
|---|---|
The context-specific roles of urea cycle enzymes in tumorigenesis.
Topics: Ammonia; Carcinogenesis; Cell Line, Tumor; Cell Proliferation; Cell Transformation, Neoplastic; Gene | 2021 |
CPS1: Looking at an ancient enzyme in a modern light.
Topics: Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; | 2020 |
Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders.
Topics: Ammonia; Emergency Treatment; Humans; Hyperammonemia; Infant; Infant, Newborn; Urea; Urea Cycle Diso | 2018 |
Ammonia and autophagy: An emerging relationship with implications for disorders with hyperammonemia.
Topics: Ammonia; Animals; Autophagy; Glutamate-Ammonia Ligase; Glutamine; Homeostasis; Humans; Hyperammonemi | 2019 |
Progress and challenges in development of new therapies for urea cycle disorders.
Topics: Animals; Cell- and Tissue-Based Therapy; Combined Modality Therapy; Disease Management; Disease Susc | 2019 |
Arginase-1 deficiency.
Topics: Animals; Arginase; Disease Models, Animal; Genetic Association Studies; Humans; Hyperargininemia; Li | 2015 |
Ammonia toxicity and its prevention in inherited defects of the urea cycle.
Topics: Adult; Ammonia; Animals; Arginine; Genetic Therapy; Humans; Hyperammonemia; Ornithine Carbamoyltrans | 2009 |
Severe hyperammonaemia in adults not explained by liver disease.
Topics: Adult; Amino Acids; Ammonia; Biological Transport; Blood-Brain Barrier; Brain; Glutamine; Humans; Hy | 2012 |
3 trials available for urea and Urea Cycle Disorders, Inborn
| Article | Year |
|---|---|
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders.
Topics: Ammonia; Biomarkers; Cell Transplantation; Europe; Female; Humans; Hyperammonemia; Infant; Infant, N | 2018 |
A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers.
Topics: Adult; Benzoates; Female; Healthy Volunteers; Humans; Male; Middle Aged; Nitrogen; Phenylbutyrates; | 2018 |
Ammonia control in children with urea cycle disorders (UCDs); phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate.
Topics: Adolescent; Ammonia; Child; Dose-Response Relationship, Drug; Glycerol; Humans; Male; Phenylbutyrate | 2011 |
25 other studies available for urea and Urea Cycle Disorders, Inborn
| Article | Year |
|---|---|
Perceptions and use of phenylbutyrate metabolite testing in urea cycle disorders: Results of a clinician survey and analysis of a centralized testing database.
Topics: Humans; Hyperammonemia; Nitrogen; Phenylbutyrates; Surveys and Questionnaires; Urea; Urea Cycle Diso | 2022 |
Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model.
Topics: Ammonia; Animals; Disease Models, Animal; Glutaminase; Glutamine; Humans; Hyperammonemia; Liver; Mic | 2022 |
The diagnostic challenge of mild citrulline elevation at newborn screening.
Topics: Citrulline; Citrullinemia; Humans; Infant, Newborn; Neonatal Screening; Urea; Urea Cycle Disorders, | 2022 |
Evaluation of oxidative damage to biomolecules and inflammation in patients with urea cycle disorders.
Topics: Adolescent; Child; Child, Preschool; Cytokines; Humans; Infant; Infant, Newborn; Inflammation; Oxida | 2023 |
Taste-masked formulation of sodium phenylbutyrate (ACER-001) for the treatment of urea cycle disorders.
Topics: Humans; Hyperammonemia; Nitrogen; Phenylbutyrates; Powders; Rare Diseases; Taste; Urea; Urea Cycle D | 2023 |
Citrulline in the management of patients with urea cycle disorders.
Topics: Ammonia; Arginine; Citrulline; Drug-Related Side Effects and Adverse Reactions; Humans; Retrospectiv | 2023 |
Transition to glycerol phenylbutyrate for the management of urea cycle disorders: clinical experiences.
Topics: Ammonia; Glutamine; Humans; Quality of Life; Urea; Urea Cycle Disorders, Inborn | 2023 |
Glucose-dependent partitioning of arginine to the urea cycle protects β-cells from inflammation.
Topics: Adolescent; Adult; Aged; Arginine; Aspartic Acid; Cell Survival; Citric Acid Cycle; Female; Glucose; | 2020 |
A retrospective study of adult patients with noncirrhotic hyperammonemia.
Topics: Adult; Age of Onset; Aged; Ammonia; Female; Humans; Hyperammonemia; Male; Middle Aged; Retrospective | 2020 |
Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase.
Topics: Amino-Acid N-Acetyltransferase; Animals; Arginine; Citrulline; Dependovirus; Disease Models, Animal; | 2021 |
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Topics: Ammonia; Argininosuccinic Aciduria; Chromatography, Liquid; Female; Glutamine; Glycerol; Humans; Lim | 2017 |
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders.
Topics: Adolescent; Adult; Biomarkers; Child; Child, Preschool; Female; Humans; Male; Mass Spectrometry; Met | 2019 |
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
Topics: Cohort Studies; Data Analysis; Delayed Diagnosis; Europe; Female; Humans; Infant, Newborn; Male; Neo | 2019 |
The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias.
Topics: Humans; Hyperammonemia; Hypothermia, Induced; Hypoxia-Ischemia, Brain; Infant, Newborn; Treatment Ou | 2019 |
Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias.
Topics: Adolescent; Child; Child, Preschool; Developmental Disabilities; Humans; Hyperammonemia; Hypothermia | 2013 |
The urea cycle disorders.
Topics: Brain; Diagnosis, Differential; Humans; Hyperammonemia; Ornithine Carbamoyltransferase Deficiency Di | 2014 |
Computational modeling to predict nitrogen balance during acute metabolic decompensation in patients with urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Diet; Dietary Proteins; Glucose; Human | 2016 |
In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.
Topics: Administration, Oral; Adolescent; Adult; Carbon Isotopes; Child; Child, Preschool; Female; Humans; H | 2016 |
Initial presentation of a urea cycle disorder in adulthood: an under-recognised cause of severe neurological dysfunction.
Topics: Diagnosis, Differential; Humans; Magnetic Resonance Imaging; Male; Nervous System Diseases; Severity | 2015 |
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonium Compounds; Argininosuccinate Synthase; Ch | 2016 |
A rare cause of postpartum coma: isolated hyperammonemia due to urea cycle disorder.
Topics: Ammonia; Coma; Female; Humans; Hyperammonemia; Ornithine Carbamoyltransferase Deficiency Disease; Po | 2016 |
Functional characterization of hepatocytes for cell transplantation: customized cell preparation for each receptor.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Biological Assay; Cell Separation; Cell Survival; Cell T | 2010 |
Creatine metabolism and the urea cycle.
Topics: Animals; Creatine; Glycine; Humans; Kidney; Urea; Urea Cycle Disorders, Inborn | 2010 |
Long-term outcome and intervention of urea cycle disorders in Japan.
Topics: Age of Onset; Ammonia; Female; Humans; Japan; Male; Ornithine Carbamoyltransferase Deficiency Diseas | 2012 |
Integrating cellular metabolism into a multiscale whole-body model.
Topics: Acetaminophen; Allopurinol; Ammonia; Chemical and Drug Induced Liver Injury; Computational Biology; | 2012 |