carnitine has been researched along with Urea Cycle Disorders, Inborn in 10 studies
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 |
|---|---|---|
| "Orotic acid was extracted from DBS punches and analyzed using flow-injection analysis tandem mass spectrometry (FIA-MS/MS) with negative-mode ionization, requiring <2 min/sample run time." | 1.40 | Development of an assay to simultaneously measure orotic acid, amino acids, and acylcarnitines in dried blood spots. ( Baker, MW; De Jesús, VR; Haynes, CA; Held, PK, 2014) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 9 (90.00) | 24.3611 |
| 2020's | 1 (10.00) | 2.80 |
| Authors | Studies |
|---|---|
| Wu, D | 1 |
| Lu, B | 1 |
| Yang, J | 1 |
| Yang, R | 1 |
| Huang, X | 1 |
| Tong, F | 1 |
| Zheng, J | 1 |
| Zhao, Z | 1 |
| Raina, R | 1 |
| Bedoyan, JK | 1 |
| Lichter-Konecki, U | 1 |
| Jouvet, P | 1 |
| Picca, S | 1 |
| Mew, NA | 1 |
| Machado, MC | 1 |
| Chakraborty, R | 1 |
| Vemuganti, M | 1 |
| Grewal, MK | 1 |
| Bunchman, T | 1 |
| Sethi, SK | 1 |
| Krishnappa, V | 1 |
| McCulloch, M | 1 |
| Alhasan, K | 1 |
| Bagga, A | 1 |
| Basu, RK | 1 |
| Schaefer, F | 1 |
| Filler, G | 1 |
| Warady, BA | 1 |
| Gong, LF | 1 |
| Ye, J | 2 |
| Han, LS | 1 |
| Qiu, WJ | 1 |
| Zhang, HW | 1 |
| Gao, XL | 1 |
| Jin, J | 2 |
| Xu, H | 2 |
| Gu, XF | 1 |
| Lam, C | 1 |
| Carter, JM | 1 |
| Cederbaum, SD | 1 |
| Neidich, J | 1 |
| Gallant, NM | 1 |
| Lorey, F | 1 |
| Feuchtbaum, L | 1 |
| Wong, DA | 1 |
| Held, PK | 1 |
| Haynes, CA | 1 |
| De Jesús, VR | 1 |
| Baker, MW | 1 |
| Gong, L | 1 |
| Han, L | 1 |
| Qiu, W | 1 |
| Zhang, H | 1 |
| Gao, X | 1 |
| Gu, X | 1 |
| Minkler, PE | 1 |
| Stoll, MS | 1 |
| Ingalls, ST | 1 |
| Kerner, J | 1 |
| Hoppel, CL | 1 |
| Rips, J | 1 |
| Almashanu, S | 1 |
| Mandel, H | 1 |
| Josephsberg, S | 1 |
| Lerman-Sagie, T | 1 |
| Zerem, A | 1 |
| Podeh, B | 1 |
| Anikster, Y | 1 |
| Shaag, A | 1 |
| Luder, A | 1 |
| Staretz Chacham, O | 1 |
| Spiegel, R | 1 |
| Peake, RW | 1 |
| Morscher, RJ | 1 |
| Grünert, SC | 1 |
| Bürer, C | 1 |
| Burda, P | 1 |
| Suormala, T | 1 |
| Fowler, B | 1 |
| Baumgartner, MR | 1 |
1 review available for carnitine and Urea Cycle Disorders, Inborn
| Article | Year |
|---|---|
Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy.
Topics: Arginine; Carnitine; Child; Child, Preschool; Continuous Renal Replacement Therapy; Delphi Technique | 2020 |
9 other studies available for carnitine and Urea Cycle Disorders, Inborn
| Article | Year |
|---|---|
[Genetic analysis of newborns with abnormal metabolism of 3-hydroxyisovalerylcarnitine].
Topics: Carbon-Carbon Ligases; Carnitine; Female; Genetic Testing; Genetic Variation; Humans; Infant, Newbor | 2019 |
[Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency].
Topics: Adult; Amino Acid Sequence; Base Sequence; Carbon-Carbon Ligases; Carnitine; DNA Mutational Analysis | 2013 |
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.
Topics: Acetonitriles; California; Carbon-Carbon Ligases; Carnitine; Humans; Infant; Infant, Newborn; Neonat | 2013 |
Development of an assay to simultaneously measure orotic acid, amino acids, and acylcarnitines in dried blood spots.
Topics: Amino Acids; Carnitine; Dried Blood Spot Testing; Female; Flow Injection Analysis; Humans; Infant; I | 2014 |
[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening].
Topics: Amino Acid Sequence; Asian People; Carbon-Carbon Ligases; Carnitine; Child; Child, Preschool; DNA Mu | 2014 |
Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles".
Topics: Acetyl-CoA C-Acyltransferase; Acyl-CoA Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Betaine; | 2015 |
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.
Topics: Carbon-Carbon Ligases; Carnitine; Child, Preschool; Family; Female; Humans; Infant, Newborn; Israel; | 2016 |
A Case of Increased C5-OH Acylcarnitine.
Topics: Acids, Acyclic; Carbon-Carbon Ligases; Carnitine; Gas Chromatography-Mass Spectrometry; Humans; Infa | 2016 |
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
Topics: Acyl Coenzyme A; Carbon-Carbon Ligases; Carnitine; Cells, Cultured; Child; Child, Preschool; DNA Mut | 2012 |