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octanoylcarnitine and Lipid Metabolism, Inborn Error

octanoylcarnitine has been researched along with Lipid Metabolism, Inborn Error in 13 studies

Research

Studies (13)

TimeframeStudies, this research(%)All Research%
pre-19902 (15.38)18.7374
1990's3 (23.08)18.2507
2000's1 (7.69)29.6817
2010's6 (46.15)24.3611
2020's1 (7.69)2.80

Authors

AuthorsStudies
Li, HY; Li, YY; Mu, K; Sun, XC; Xu, J1
Bosch, AM; de Vries, M; Derks, TGJ; Gozalbo, ER; Jager, EA; Kuijpers, MM; Mulder, MF; Schielen, PCJI; van Spronsen, FJ; Visser, G; Waterham, HR; Williams, M1
Li, Y; Liu, Y; Song, J; Xu, J; Yang, Y; Zhu, R1
Hagar, A; Hall, PL; Wittenauer, A1
Hoppel, CL; Ingalls, ST; Minkler, PE; Stoll, MSK1
Busch, U; Fingerhut, R; Liebl, B; Maier, EM; Muntau, AC; Nennstiel-Ratzel, U; Olgemöller, B; Pongratz, J; Roscher, AA; Röschinger, W1
Gavrilov, D; Highsmith, WE; Matern, D; McHugh, D; Oglesbee, D; Raymond, K; Rinaldo, P; Smith, EH; Thomas, C; Tortorelli, S1
Grings, M; Knebel, LA; Leipnitz, G; Moura, AP; Ribeiro, CA; Tonin, AM; Wajner, M; Zanatta, Â1
Chace, DH; Chen, YT; Ding, JH; Iafolla, AK; Kahler, SG; Millington, DS; Roe, CR; Terada, N; Van Hove, JL; Zhang, W1
Bennett, MJ; Duran, M; Penn, D; Santer, R; Schmidt-Sommerfeld, E; Stanley, CA1
Gage, DA; Huang, ZH; Kossak, D; Li, BU; Penn, D; Rinaldo, P; Schmidt-Sommerfeld, E1
Bruinvis, L; de Jager, JP; de Klerk, JB; Duran, M; Hofkamp, M; Ketting, D; Mitchell, G; Saudubray, JM; Wadman, SK1
Beckeringh, TE; Bruinvis, L; Dorland, L; Duran, M; Ketting, D; van Vossen, R; Wadman, SK1

Other Studies

13 other study(ies) available for octanoylcarnitine and Lipid Metabolism, Inborn Error

ArticleYear
Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population.
    Journal of pediatric endocrinology & metabolism : JPEM, 2022, Oct-26, Volume: 35, Issue:10

    Topics: Acyl-CoA Dehydrogenase; Carnitine; China; Fatty Acids; Genetic Variation; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Neonatal Screening; Retrospective Studies; Tandem Mass Spectrometry

2022
A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.
    Journal of inherited metabolic disease, 2019, Volume: 42, Issue:5

    Topics: Acyl-CoA Dehydrogenase; Carnitine; Female; Genotype; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Neonatal Screening; Netherlands; Prevalence; Retrospective Studies

2019
Medium-chain acyl-coenzyme A dehydrogenase deficiency: Six cases in the Chinese population.
    Pediatrics international : official journal of the Japan Pediatric Society, 2019, Volume: 61, Issue:6

    Topics: Acyl-CoA Dehydrogenase; Biomarkers; Carnitine; Child, Preschool; China; Female; Genetic Markers; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mutation; Neonatal Screening

2019
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: performance improvement by monitoring a new ratio.
    Molecular genetics and metabolism, 2014, Volume: 113, Issue:4

    Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Biomarkers; Carnitine; False Positive Reactions; Heterozygote; Humans; Infant; Infant, Newborn; Infant, Very Low Birth Weight; Lipid Metabolism, Inborn Errors; Neonatal Screening; United States

2014
Correcting false positive medium-chain acyl-CoA dehydrogenase deficiency results from newborn screening; synthesis, purification, and standardization of branched-chain C8 acylcarnitines for use in their selective and accurate absolute quantitation by UHPL
    Molecular genetics and metabolism, 2017, Volume: 120, Issue:4

    Topics: Acyl-CoA Dehydrogenase; Carnitine; Chromatography, High Pressure Liquid; False Positive Reactions; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Neonatal Screening; Sensitivity and Specificity; Tandem Mass Spectrometry

2017
Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected].
    Clinical genetics, 2009, Volume: 76, Issue:2

    Topics: Carnitine; Case-Control Studies; Heterozygote; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Mutation; Neonatal Screening

2009
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.
    Molecular genetics and metabolism, 2010, Volume: 100, Issue:3

    Topics: Acyl-CoA Dehydrogenase; Adolescent; Adult; Alleles; Carnitine; Child; Child, Preschool; DNA Mutational Analysis; Exons; Genetic Association Studies; Genetic Carrier Screening; Genetic Variation; Genotype; Glycine; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Middle Aged; Mutation; Mutation, Missense; Neonatal Screening; Polymorphism, Single Nucleotide; Young Adult

2010
Disruption of redox homeostasis in cerebral cortex of developing rats by acylcarnitines accumulating in medium-chain acyl-CoA dehydrogenase deficiency.
    International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 2012, Volume: 30, Issue:5

    Topics: Acyl-CoA Dehydrogenase; alpha-Tocopherol; Animals; Carnitine; Cerebral Cortex; Glutathione; Homeostasis; Lipid Metabolism, Inborn Errors; Lipid Peroxidation; Male; Melatonin; Oxidative Stress; Protein Carbonylation; Rats; Rats, Wistar; Statistics, Nonparametric; Thiobarbituric Acid Reactive Substances

2012
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.
    American journal of human genetics, 1993, Volume: 52, Issue:5

    Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Carnitine; DNA Mutational Analysis; Female; Heterozygote; Homozygote; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mass Spectrometry; Predictive Value of Tests; Reproducibility of Results

1993
Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method.
    The Journal of pediatrics, 1993, Volume: 122, Issue:5 Pt 1

    Topics: Acyl-CoA Dehydrogenase; Carnitine; Chromatography, High Pressure Liquid; Fatty Acid Desaturases; Humans; Lipid Metabolism, Inborn Errors

1993
Urinary medium-chain acylcarnitines in medium-chain acyl-CoA dehydrogenase deficiency, medium-chain triglyceride feeding and valproic acid therapy: sensitivity and specificity of the radioisotopic exchange/high performance liquid chromatography method.
    Pediatric research, 1992, Volume: 31, Issue:6

    Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Adolescent; Carnitine; Child; Child, Preschool; Chromatography, High Pressure Liquid; Humans; Infant; Lipid Metabolism, Inborn Errors; Sensitivity and Specificity; Triglycerides; Valproic Acid

1992
Octanoic acidemia and octanoylcarnitine excretion with dicarboxylic aciduria due to defective oxidation of medium-chain fatty acids.
    The Journal of pediatrics, 1985, Volume: 107, Issue:3

    Topics: Acyl-CoA Dehydrogenases; Caprylates; Carnitine; Cells, Cultured; Decanoic Acids; Dicarboxylic Acids; Fatty Acids; Fatty Acids, Nonesterified; Female; Fibroblasts; Humans; Infant; Lipid Metabolism, Inborn Errors; Male; Oxidation-Reduction

1985
Octanoylglucuronide excretion in patients with a defective oxidation of medium-chain fatty acids.
    Clinica chimica acta; international journal of clinical chemistry, 1985, Nov-15, Volume: 152, Issue:3

    Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Caprylates; Carnitine; Fatty Acids; Gas Chromatography-Mass Spectrometry; Humans; Hydrogen-Ion Concentration; Lipid Metabolism, Inborn Errors

1985