urea has been researched along with Arginino Succinase Deficiency in 43 studies
pseudourea: clinical use; structure
isourea : A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives.
| Excerpt | Relevance | Reference |
|---|---|---|
| " In contrast, hyperargininemia found in patients with arginase 1 deficiency is associated with pyramidal tract findings and spasticity, without significant hyperammonemia." | 4.82 | Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. ( Brunetti-Pierri, N; Carter, S; Garlick, P; Jahoor, F; Kleppe, S; Lee, B; Marini, J; O'Brien, W; Scaglia, F, 2004) |
| "Argininosuccinic aciduria (ASA) is the second most common genetic disorder affecting the urea cycle." | 3.88 | Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria. ( Ashley, SN; Buza, EL; Greig, JA; Nordin, JML; Wilson, JM, 2018) |
| " The 1H-NMR metabolic profile from the urine of patients with citrullinaemia and argininosuccinic aciduria consistently demonstrated the presence of the diagnostic metabolites citrulline, N-acetylcitrulline and argininosuccinate, respectively." | 3.68 | Investigation of urea cycle enzyme disorders by 1H-NMR spectroscopy. ( Burns, SP; Iles, RA; Leonard, JV; Woolf, DA, 1992) |
| "We studied 26 children with inborn errors of urea synthesis who survived neonatal hyperammonemic coma." | 3.67 | Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies. ( Batshaw, ML; Brusilow, SW; Mellits, ED; Msall, M; Suss, R, 1984) |
| "Children with inborn errors of urea synthesis accumulate ammonium and other nitrogenous precursors of urea, leading to episodic coma and a high mortality rate." | 3.66 | Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion. ( Batshaw, ML; Blom, W; Brubakk, AM; Brusilow, S; Burton, BK; Cann, HM; Kerr, D; Mamunes, P; Matalon, R; Myerberg, D; Schafer, IA; Waber, L, 1982) |
| "Urea cycle disorders and other hyperammonemic syndromes should be considered in the differential diagnosis in newborns with a history of severe vomiting, lethargy, and seizures, and in infants with feeding problems, episodic vomiting, and altered consciousness." | 3.65 | Congenital hyperammonemic syndromes. ( Shih, VE, 1976) |
| "Neonatal seizures were not associated with a higher risk of developing epilepsy." | 1.91 | Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study. ( Baruteau, J; Bernhardt, I; Boyd, S; Chakrapani, A; Chan, A; Cleary, M; Crowther, L; Dionisi-Vici, C; Elkhateeb, N; Gissen, P; Grunewald, S; Hartley, T; Lachmann, R; Mills, P; Morris, AAM; Mundy, H; Murphy, E; Olivieri, G; Ridout, D; Santra, S; Sharma, R; Siri, B; Stepien, KM; Sudakhar, S; Uudelepp, ML; Yeo, M, 2023) |
| "One patient with OTC deficiency has had a liver transplant." | 1.35 | Hereditary urea cycle diseases in Finland. ( Keskinen, P; Salo, M; Siitonen, A, 2008) |
| "The hyperammonemia of Reye's syndrome apparently results from excess waste nitrogen that overwhelms the ability of reduced ornithine transcarbamylase (and occasionally carbamyl phosphate synthetase) to detoxify the ammonia load." | 1.26 | Urea-cycle enzyme deficiencies and an increased nitrogen load producing hyperammonemia in Reye's syndrome. ( DeLong, GR; Snodgrass, PJ, 1976) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 23 (53.49) | 18.7374 |
| 1990's | 6 (13.95) | 18.2507 |
| 2000's | 8 (18.60) | 29.6817 |
| 2010's | 3 (6.98) | 24.3611 |
| 2020's | 3 (6.98) | 2.80 |
| Authors | Studies |
|---|---|
| Rezvani, M | 1 |
| Campbell, KM | 1 |
| Prada, CE | 1 |
| Peters, AL | 1 |
| Elkhateeb, N | 1 |
| Olivieri, G | 1 |
| Siri, B | 1 |
| Boyd, S | 1 |
| Stepien, KM | 1 |
| Sharma, R | 1 |
| Morris, AAM | 1 |
| Hartley, T | 1 |
| Crowther, L | 1 |
| Grunewald, S | 1 |
| Cleary, M | 1 |
| Mundy, H | 1 |
| Chakrapani, A | 1 |
| Lachmann, R | 1 |
| Murphy, E | 1 |
| Santra, S | 1 |
| Uudelepp, ML | 1 |
| Yeo, M | 1 |
| Bernhardt, I | 1 |
| Sudakhar, S | 1 |
| Chan, A | 1 |
| Mills, P | 1 |
| Ridout, D | 1 |
| Gissen, P | 1 |
| Dionisi-Vici, C | 1 |
| Baruteau, J | 1 |
| Spada, M | 1 |
| Porta, F | 1 |
| Righi, D | 1 |
| Gazzera, C | 1 |
| Tandoi, F | 1 |
| Ferrero, I | 1 |
| Fagioli, F | 1 |
| Sanchez, MBH | 1 |
| Calvo, PL | 1 |
| Biamino, E | 1 |
| Bruno, S | 1 |
| Gunetti, M | 1 |
| Contursi, C | 1 |
| Lauritano, C | 1 |
| Conio, A | 1 |
| Amoroso, A | 1 |
| Salizzoni, M | 1 |
| Silengo, L | 1 |
| Camussi, G | 1 |
| Romagnoli, R | 1 |
| Jiang, Y | 1 |
| Almannai, M | 1 |
| Sutton, VR | 1 |
| Sun, Q | 1 |
| Elsea, SH | 1 |
| Ashley, SN | 1 |
| Nordin, JML | 1 |
| Buza, EL | 1 |
| Greig, JA | 1 |
| Wilson, JM | 1 |
| Keskinen, P | 1 |
| Siitonen, A | 1 |
| Salo, M | 1 |
| Mitchell, S | 1 |
| Ellingson, C | 1 |
| Coyne, T | 1 |
| Hall, L | 1 |
| Neill, M | 1 |
| Christian, N | 1 |
| Higham, C | 1 |
| Dobrowolski, SF | 1 |
| Tuchman, M | 1 |
| Summar, M | 2 |
| Beck, NM | 1 |
| Johnston, JP | 1 |
| Lemke, KS | 1 |
| Pogacar, P | 1 |
| Phornphutkul, C | 1 |
| Reid Sutton, V | 1 |
| Pan, Y | 1 |
| Davis, EC | 1 |
| Craigen, WJ | 1 |
| Häberle, J | 2 |
| Koch, HG | 1 |
| Scaglia, F | 1 |
| Brunetti-Pierri, N | 1 |
| Kleppe, S | 1 |
| Marini, J | 1 |
| Carter, S | 1 |
| Garlick, P | 1 |
| Jahoor, F | 1 |
| O'Brien, W | 1 |
| Lee, B | 2 |
| Smith, W | 1 |
| Kishnani, PS | 1 |
| Singh, RH | 1 |
| Rhead, WJ | 1 |
| Sniderman King, L | 1 |
| Smith, M | 1 |
| Roze, E | 1 |
| Azuar, C | 1 |
| Menuel, C | 1 |
| Guillevin, R | 1 |
| Deignan, JL | 1 |
| Cederbaum, SD | 1 |
| Grody, WW | 1 |
| Batshaw, ML | 5 |
| Brusilow, SW | 5 |
| Jaeken, J | 1 |
| Devlieger, H | 1 |
| Evens, M | 1 |
| Casaer, P | 1 |
| Eggermont, E | 1 |
| Msall, M | 1 |
| Suss, R | 1 |
| Mellits, ED | 1 |
| Walser, M | 1 |
| Naylor, EW | 2 |
| Brusilow, S | 2 |
| Waber, L | 1 |
| Blom, W | 1 |
| Brubakk, AM | 1 |
| Burton, BK | 1 |
| Cann, HM | 1 |
| Kerr, D | 1 |
| Mamunes, P | 1 |
| Matalon, R | 1 |
| Myerberg, D | 1 |
| Schafer, IA | 3 |
| Talbot, HW | 1 |
| Sumlin, AB | 1 |
| Guthrie, R | 1 |
| Painter, MJ | 1 |
| Sproul, GT | 1 |
| Thomas, GH | 1 |
| Matsuda, I | 1 |
| Matsuura, T | 1 |
| Hoshide, R | 1 |
| Uchino, T | 1 |
| Matsubasa, T | 1 |
| Tazawa, Y | 1 |
| Chabchoub, A | 1 |
| M'kadmi, T | 1 |
| Marrakchi, Z | 1 |
| Khiari, D | 1 |
| Kaabachi, N | 1 |
| Ayachi, R | 1 |
| Mebazzaa, R | 1 |
| Khrouf, N | 1 |
| Valle, DL | 1 |
| Batshaw, M | 1 |
| Glick, NR | 1 |
| Snodgrass, PJ | 2 |
| Shambaugh, GE | 1 |
| Raijman, L | 1 |
| Böhles, H | 1 |
| Harms, D | 1 |
| Heid, H | 1 |
| Sitzmann, FC | 1 |
| Fekl, W | 1 |
| Shih, VE | 1 |
| van der Heiden, C | 1 |
| Gerards, LJ | 1 |
| van Biervliet, JP | 1 |
| Desplanque, J | 1 |
| de Bree, PK | 1 |
| van Sprang, FJ | 1 |
| Wadman, SK | 1 |
| Wolfe, DM | 1 |
| Gatfield, PD | 1 |
| DeLong, GR | 1 |
| Oberholzer, VG | 1 |
| Palmer, T | 1 |
| Burns, SP | 1 |
| Woolf, DA | 1 |
| Leonard, JV | 1 |
| Iles, RA | 1 |
| Maestri, NE | 1 |
| Hauser, ER | 1 |
| Bartholomew, D | 1 |
| Ohtake, A | 1 |
| Mori, M | 1 |
| Chadefaux, B | 1 |
| Rabier, D | 1 |
| Kamoun, P | 1 |
| Kobayashi, K | 1 |
| Itakura, Y | 1 |
| Saheki, T | 1 |
| Nakano, K | 1 |
| Sase, M | 1 |
| Oyanagi, K | 1 |
| Okamoto, R | 1 |
| Mino, M | 1 |
| Hudak, ML | 1 |
| Jones, MD | 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 | |||
| The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity[NCT01421888] | 4 participants (Actual) | Observational | 2011-08-08 | Terminated | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
8 reviews available for urea and Arginino Succinase Deficiency
| Article | Year |
|---|---|
Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism.
Topics: Animals; Arginine; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase I Deficiency Disease; Enz | 2004 |
Urea cycle disorders: clinical presentation outside the newborn period.
Topics: Age of Onset; Amino Acid Metabolism, Inborn Errors; Argininosuccinic Aciduria; Child, Preschool; Fem | 2005 |
Contrasting features of urea cycle disorders in human patients and knockout mouse models.
Topics: Amino-Acid N-Acetyltransferase; Animals; Arginase; Argininosuccinate Lyase; Argininosuccinate Syntha | 2008 |
Urea cycle enzymopathies.
Topics: Acetyltransferases; Adult; Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Arg | 1982 |
[Molecular basis of urea cycle disorders].
Topics: Alleles; Arginase; Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Aciduria; C | 1993 |
[Urea cycle disorders].
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamo | 1995 |
Urea biosynthesis II. Normal and abnormal regulation.
Topics: Adrenal Cortex Hormones; Adrenal Glands; Ammonia; Animals; Argininosuccinate Synthase; Argininosucci | 1978 |
[Prenatal diagnosis of enzymopathies of the urea cycle].
Topics: Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase (Ammonia); Femal | 1988 |
1 trial available for urea and Arginino Succinase Deficiency
| Article | Year |
|---|---|
Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study.
Topics: Age of Onset; Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinic Aciduria; Cell Differe | 2020 |
34 other studies available for urea and Arginino Succinase Deficiency
| Article | Year |
|---|---|
Early allograft dysfunction in a pediatric liver allograft with an occult pathogenic mutation in the urea cycle.
Topics: Allografts; Argininosuccinic Aciduria; Child; Humans; Liver; Mutation; Urea | 2023 |
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Topics: Arginine; Argininosuccinic Aciduria; Epilepsy; Humans; Nitric Oxide; Retrospective Studies; Seizures | 2023 |
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 |
Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria.
Topics: Animals; Argininosuccinate Lyase; Argininosuccinic Aciduria; Dependovirus; Disease Models, Animal; G | 2018 |
Hereditary urea cycle diseases in Finland.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Argininosuccinic Aciduria; Carbamoyl-Phosph | 2008 |
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases.
Topics: Ammonia; Arginase; Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Aciduria; C | 2009 |
Rhode Island metabolic newborn screening: the effect of early identification. A case report of argininosuccinic aciduria (ASA).
Topics: Argininosuccinate Lyase; Argininosuccinic Aciduria; Humans; Infant, Newborn; Intubation, Gastrointes | 2011 |
A mouse model of argininosuccinic aciduria: biochemical characterization.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginase; Arginine; Argininosuccinate Lyase; Arginino | 2003 |
Genetic approach to prenatal diagnosis in urea cycle defects.
Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; Argininosuccinate Synthase; Argininosuccinic Aci | 2004 |
Usefulness of magnetic resonance spectroscopy in urea cycle disorders.
Topics: Adult; Argininosuccinic Aciduria; Brain Diseases, Metabolic; Creatine; Female; Humans; Magnetic Reso | 2007 |
Hyperammonemia.
Topics: Acetyltransferases; Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Ammonia; A | 1984 |
Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinate Synthase; Argininosuccini | 1984 |
[Neonatal hyperammonemia].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinic Aciduria; Carbamoyl-Phosphate Syntha | 1983 |
Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria | 1984 |
Newborn screening for urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinic Aciduria; Bacillus subtilis; Biological Assay | 1982 |
Sodium benzoate and arginine: alternative pathway therapy in inborn errors of urea synthesis.
Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic A | 1983 |
Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Ammonia; Arginine; Argininosuccinate S | 1982 |
A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Aciduria; Blood Specimen Collection | 1982 |
Therapy of urea cycle enzymopathies: three case studies.
Topics: Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Child, Preschool; Citrulline; C | 1981 |
[Argininosuccinic aciduria. Apropos of the 1st Tunisian case in a newborn].
Topics: Age Factors; Argininosuccinic Acid; Argininosuccinic Aciduria; Humans; Infant, Newborn; Male; Tunisi | 1995 |
New pathways of nitrogen excretion in inborn errors of urea synthesis.
Topics: Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Citrulline; Dietary Proteins; Hippu | 1979 |
Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity.
Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Argininosuccinate Lyase; Argininosuccinate | 1976 |
Double deficiencies of urea cycle enzymes in human liver.
Topics: Ammonia; Animals; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthas | 1979 |
Protein load in argininosuccinic aciduria: thoughts on its biochemical implications.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Argininosuccinic Acid; | 1978 |
Congenital hyperammonemic syndromes.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria | 1976 |
Lethal neonatal argininosuccinate lyase deficiency in four children from one sibship.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Argininosuccinic Aciduria; Diseases in T | 1976 |
Leukocyte urea cycle enzymes in hyperammonemia.
Topics: Ammonia; Animals; Arginase; Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Ac | 1975 |
Urea-cycle enzyme deficiencies and an increased nitrogen load producing hyperammonemia in Reye's syndrome.
Topics: Adolescent; Adult; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria; Brain Diseases; C | 1976 |
Increased excretion of N-carbamoyl compounds in patients with urea cycle defects.
Topics: Alanine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Aspartic Acid; Carbamates; Child; Ch | 1976 |
Investigation of urea cycle enzyme disorders by 1H-NMR spectroscopy.
Topics: Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduri | 1992 |
Prospective treatment of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Anthropometry; Argininosuccinate Synthase; Argininosu | 1991 |
[Molecular genetics of urea cycle diseases].
Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; Ammonia; Animals; Arginase; Argininosuccinate Ly | 1990 |
Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Br | 1986 |
Differentiation of transient hyperammonemia of the newborn and urea cycle enzyme defects by clinical presentation.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Apgar Score; Argininosuccinate Synthase; Argininosucc | 1985 |