carnitine and ethylmalonic acid

carnitine has been researched along with ethylmalonic acid in 15 studies

Research

Studies (15)

TimeframeStudies, this research(%)All Research%
pre-19902 (13.33)18.7374
1990's4 (26.67)18.2507
2000's5 (33.33)29.6817
2010's4 (26.67)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
de Sousa, C; Green, A; Pollitt, RJ; Preece, MA1
Gargus, JJ; O'Shea, JJ; Previs, SF; Rinaldo, P; Schmidt-Sommerfeld, E; Welch, RD; Zinn, AB1
Eber, SW; Hanefeld, F; Hoffmann, GF; Hunneman, DH; Jakobs, C; Rating, D; Reichmann, H; Wilichowski, E1
Charpentier, C; Harpey, JP; Paturneau-Jouas, M1
Amendt, BA; Armstrong, D; Inoue, F; Millington, DS; Rhead, WJ; Wood, PA1
Charpentier, C; Coudé, M; Divry, P; Harpey, JP; Paturneau-Jouas, M1
Bali, D; Gregersen, N; Koeberl, DD; Liu, HM; Matern, D; Millington, DS; Stevens, RD; Young, SP1
Bok, LA; Corydon, MJ; Duran, M; Gregersen, N; Vreken, P; Wanders, RJ; Waterham, HR; Wijburg, FA1
Gordon, N1
Belanger-Quintana, A; Bischoff, C; de la Mota, JL; Ferrer, I; García, MJ; Gregersen, N; Martin-Hernández, E; Martínez Pardo, M; Merinero, B; Pérez-Cerdá, C; Ruiz Sala, P; Ugarte, M; Vianey-Saban, C1
Duran, M; Hogeveen, M; Ijlst, L; Niezen-Koning, KE; van Maldegem, BT; Wanders, RJ; Waterham, HR; Wijburg, FA1
Duran, M; van Maldegem, BT; Wanders, RJ; Waterham, HR; Wijburg, FA1
Abdenur, JE; Barshop, BA; Cederbaum, SD; Chang, E; Deignan, JL; Dorrani, N; Feuchtbaum, L; Gallant, NM; Leydiker, K; Lorey, F; Neidich, J; Puckett, R; Tang, H; Wang, RY1
Achanzar, WE; Aranibar, N; Augustine, KA; Bennett, MJ; Brannen, KC; Carlson, KE; Charlap, JH; Dubrow, KM; Flint, OP; Horvath, JJ; Janovitz, EB; Kang, L; Kozlosky, JC; Megill, JR; Moulin, FJ; Ott, KH; Panzica-Kelly, JM; Patrone, LM; Rosini, LT; Tirmenstein, MA; Tomlinson, L; Zhang, H1
Gai, Z; Huang, Y; Liu, Y; Zhang, K1

Reviews

1 review(s) available for carnitine and ethylmalonic acid

ArticleYear
Sudden infant death syndrome and inherited disorders of fatty acid beta-oxidation.
    Biology of the neonate, 1990, Volume: 58 Suppl 1

    Topics: Adipates; Adolescent; Carnitine; Child; Child, Preschool; Fatty Acid Desaturases; Fatty Acids; Humans; Infant; Lipid Metabolism, Inborn Errors; Malonates; Oxidation-Reduction; Sudden Infant Death

1990

Trials

1 trial(s) available for carnitine and ethylmalonic acid

ArticleYear
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency.
    Pediatric research, 2010, Volume: 67, Issue:3

    Topics: Adolescent; Biomarkers; Butyryl-CoA Dehydrogenase; Carnitine; Child; Child, Preschool; Female; Flavin-Adenine Dinucleotide; Genetic Predisposition to Disease; Humans; Infant; Lipid Metabolism, Inborn Errors; Male; Malonates; Mutation; Phenotype; Prospective Studies; Riboflavin; Treatment Outcome; Vitamin B Complex

2010

Other Studies

13 other study(ies) available for carnitine and ethylmalonic acid

ArticleYear
Possible deleterious effect of L-carnitine supplementation in a patient with mild multiple acyl-CoA dehydrogenation deficiency (ethylmalonic-adipic aciduria).
    Journal of inherited metabolic disease, 1991, Volume: 14, Issue:5

    Topics: Acyl-CoA Dehydrogenases; Adipates; Carnitine; Child; Humans; Hypoglycemia; Male; Malonates; Riboflavin

1991
Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines.
    Pediatric research, 1991, Volume: 30, Issue:3

    Topics: Acylation; Adipates; Administration, Oral; Carnitine; Child; Electron-Transferring Flavoproteins; Fatty Acid Desaturases; Female; Glycine; Humans; Iron-Sulfur Proteins; Malonates; Metabolism, Inborn Errors; Multienzyme Complexes; Oxidoreductases Acting on CH-NH Group Donors; Triglycerides

1991
Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia.
    Journal of inherited metabolic disease, 1990, Volume: 13, Issue:3

    Topics: Carnitine; Cytochrome-c Oxidase Deficiency; DNA, Mitochondrial; Fatty Acid Desaturases; Female; Humans; Infant, Newborn; Malonates; Metabolism, Inborn Errors; Mitochondria; Muscles; NADH Dehydrogenase; Pancytopenia; Psychomotor Disorders

1990
Short-chain acyl-coenzyme A dehydrogenase deficiency in mice.
    Pediatric research, 1989, Volume: 25, Issue:1

    Topics: Acyl-CoA Dehydrogenase; Animals; Carnitine; Disease Models, Animal; Fatty Acid Desaturases; Fatty Acids; Fatty Acids, Volatile; Gas Chromatography-Mass Spectrometry; Glycine; Malonates; Mice; Mice, Inbred BALB C; Oxidation-Reduction; Succinates

1989
Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency.
    The Journal of pediatrics, 1987, Volume: 110, Issue:6

    Topics: Acyl-CoA Dehydrogenase; Adipates; Carnitine; Fatty Acid Desaturases; Humans; Infant; Infant, Newborn; Malonates; Metabolism, Inborn Errors; Risk; Sudden Infant Death

1987
A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency.
    Clinica chimica acta; international journal of clinical chemistry, 2003, Volume: 337, Issue:1-2

    Topics: Acyl-CoA Dehydrogenase; Butyric Acid; Butyryl-CoA Dehydrogenase; Carbon Isotopes; Carnitine; Deuterium; DNA Mutational Analysis; Fibroblasts; Heterozygote; Homozygote; Humans; Malonates; Mutation, Missense; Palmitic Acid; Palmitoylcarnitine; Polymorphism, Genetic; Sensitivity and Specificity; Spectrometry, Mass, Electrospray Ionization; Spiro Compounds

2003
Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder.
    Pediatrics, 2003, Volume: 112, Issue:5

    Topics: Amino Acid Substitution; Anemia, Hemolytic; Butyryl-CoA Dehydrogenase; Carnitine; Consanguinity; DNA Mutational Analysis; Female; Humans; Infant, Newborn; Infant, Premature; Liver Diseases; Male; Malonates; Mutation, Missense; Pedigree; Point Mutation; Polymorphism, Genetic; Pregnancy; Pregnancy Complications; Syndrome; Thrombocytopenia

2003
Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement.
    Developmental medicine and child neurology, 2005, Volume: 47, Issue:3

    Topics: Acyl-CoA Dehydrogenase; Carnitine; Child; Child, Preschool; Chromosome Aberrations; Developmental Disabilities; Diagnosis, Differential; Electron-Transferring Flavoproteins; Female; Genes, Recessive; Genetic Variation; Humans; Hypoglycemia; Infant; Infant, Newborn; Male; Malonates; Mass Spectrometry; Metabolism, Inborn Errors; Neonatal Screening; Nervous System Diseases; Pregnancy; Prenatal Diagnosis; Prognosis; Succinates; Sudden Infant Death

2005
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.
    Journal of inherited metabolic disease, 2006, Volume: 29, Issue:5

    Topics: Brain Diseases; Butyryl-CoA Dehydrogenase; Carnitine; Humans; Malonates; Mitochondrial Proteins; Nervous System Diseases; Nucleocytoplasmic Transport Proteins

2006
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.
    JAMA, 2006, Aug-23, Volume: 296, Issue:8

    Topics: Acyl-CoA Dehydrogenase; Adolescent; Carnitine; Child; Child, Preschool; Female; Genotype; Humans; Infant; Infant, Newborn; Male; Malonates; Metabolism, Inborn Errors; Mutation; Neonatal Screening; Netherlands; Phenotype; Retrospective Studies; Riboflavin; Vitamin B Complex

2006
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
    Molecular genetics and metabolism, 2012, Volume: 106, Issue:1

    Topics: Acyl Coenzyme A; Acyl-CoA Dehydrogenase; California; Carnitine; Female; Follow-Up Studies; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Malonates; Neonatal Screening; Sequence Deletion; Succinates

2012
Cannabinoid receptor antagonist-induced striated muscle toxicity and ethylmalonic-adipic aciduria in beagle dogs.
    Toxicological sciences : an official journal of the Society of Toxicology, 2012, Volume: 129, Issue:2

    Topics: Adipates; Animals; Base Sequence; Blotting, Western; Carnitine; DNA Primers; Dogs; Female; Gene Expression Profiling; Immunohistochemistry; Malonates; Metabolomics; Muscle, Skeletal; Polymerase Chain Reaction; Radioligand Assay; Receptor, Cannabinoid, CB1

2012
[Clinical and genetic analysis of a case with atypical ethyl malonate encephalopathy].
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2018, Oct-10, Volume: 35, Issue:5

    Topics: Brain Diseases, Metabolic, Inborn; Carnitine; Child, Preschool; Female; Genetic Testing; Humans; Malonates; Mitochondrial Proteins; Nucleocytoplasmic Transport Proteins; Point Mutation; Purpura

2018