carnitine has been researched along with Inborn Urea Cycle Disorder in 10 studies
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 Inborn Urea Cycle Disorder
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 Inborn Urea Cycle Disorder
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 |