Page last updated: 2024-08-21

ethylmalonic acid and Lipid Metabolism, Inborn Error

ethylmalonic acid 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's4 (30.77)18.2507
2000's2 (15.38)29.6817
2010's3 (23.08)24.3611
2020's2 (15.38)2.80

Authors

AuthorsStudies
Basinger, A; De Biase, I; Hernandez, A; Yuzyuk, T1
Aagaard, L; Bie, A; Dipace, G; Fogh, S; Gregersen, N; Hansen, J; Kjeldsen, M; Mosegaard, S; Olsen, RKJ; Ribes, A; Van Schaftingen, E; Veiga-da-Cunha, M1
Cheon, CK; Kim, GH; Kim, YM; Ko, JM; Lee, KA; Park, KH; Park, S; Yoo, HW1
Biberoglu, G; Ezgü, FS; Okuyaz, C; Tiranti, V; Yilgör, E; Zeviani, M1
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
Fu, X; Hahn, SH; Kodama, H; Packman, S; Rinaldo, P1
Bhala, A; Böhles, H; Hale, DE; Herwig, J; Rinaldo, P; Sewell, AC1
Andresen, BS; Bolund, L; Bross, P; Christensen, E; Corydon, MJ; Gregersen, N; Jensen, TG; Kmoch, S; Kristensen, TJ; Kølvraa, S; Lehnert, W; Martinez, G; Neve, S; Ribes, A; Rinaldo, P; Winter, V1
Elias, E; Gray, RG; Green, A; Poulton, K1
Charpentier, C; Harpey, JP; Paturneau-Jouas, M1
Amendt, BA; Cloherty, J; Greene, C; Moon, A; Rhead, WJ; Shih, V; Sweetman, L; Teel, L1
Amendt, BA; Rhead, WJ1

Reviews

1 review(s) available for ethylmalonic acid and Lipid Metabolism, Inborn Error

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 ethylmalonic acid and Lipid Metabolism, Inborn Error

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

11 other study(ies) available for ethylmalonic acid and Lipid Metabolism, Inborn Error

ArticleYear
An Unusually High Excretion of Ethylmalonic Acid in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency.
    Clinical chemistry, 2021, 09-01, Volume: 67, Issue:9

    Topics: Humans; Lipid Metabolism, Inborn Errors; Malonates; Multiple Acyl Coenzyme A Dehydrogenase Deficiency

2021
Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?
    Journal of inherited metabolic disease, 2021, Volume: 44, Issue:5

    Topics: Acyl-CoA Dehydrogenase; Alleles; Gene Frequency; Genetic Variation; Genotype; HEK293 Cells; Humans; Lipid Metabolism, Inborn Errors; Malonates; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Peroxisomal Bifunctional Enzyme

2021
Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.
    Annals of clinical and laboratory science, 2016, Volume: 46, Issue:4

    Topics: Acyl-CoA Dehydrogenase; Asian People; Child; Child, Preschool; Disease Progression; Female; Follow-Up Studies; Humans; Infant; Lipid Metabolism, Inborn Errors; Male; Malonates; Mutation; Republic of Korea; Succinates; Treatment Outcome

2016
Severe infantile hypotonia with ethylmalonic aciduria: case report.
    Journal of child neurology, 2008, Volume: 23, Issue:6

    Topics: Alleles; Butyryl-CoA Dehydrogenase; Developmental Disabilities; Diagnosis, Differential; DNA Mutational Analysis; Female; Genotype; Humans; Infant; Lipid Metabolism, Inborn Errors; Malonates; Muscle Hypotonia; Muscle Weakness; Neurologic Examination; Phenotype; Polymorphism, Genetic

2008
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
Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes.
    Journal of inherited metabolic disease, 2003, Volume: 26, Issue:1

    Topics: Blotting, Northern; Brain Diseases, Metabolic; Cation Transport Proteins; Cells, Cultured; Child; Copper; Copper Transporter 1; DNA Mutational Analysis; DNA, Complementary; Fatty Acids; Female; Fibroblasts; Humans; Intellectual Disability; Lipid Metabolism, Inborn Errors; Lymphocytes; Male; Malonates; Mitochondrial Encephalomyopathies; Molecular Chaperones; Oxidation-Reduction; Phenotype

2003
A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria.
    European journal of pediatrics, 1993, Volume: 152, Issue:11

    Topics: Acyl-CoA Dehydrogenases; Bronchopneumonia; Child, Preschool; Female; Humans; Lipid Metabolism, Inborn Errors; Malonates; Muscle Hypotonia

1993
Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase.
    Pediatric research, 1996, Volume: 39, Issue:6

    Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Animals; Binding Sites; Cell Line, Transformed; Chlorocebus aethiops; DNA; Gene Expression; Genetic Variation; Lipid Metabolism, Inborn Errors; Malonates; Point Mutation; Polymorphism, Single-Stranded Conformational; RNA, Messenger

1996
Ethylmalonic adipic aciduria--a treatable hepatomuscular disorder in two adult brothers.
    Journal of hepatology, 1997, Volume: 26, Issue:2

    Topics: Adipates; Adult; Humans; Lipid Metabolism, Inborn Errors; Liver Diseases; Male; Malonates; Muscular Diseases; Reye Syndrome

1997
Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients.
    The Journal of clinical investigation, 1987, Volume: 79, Issue:5

    Topics: 3-Hydroxybutyric Acid; Acyl-CoA Dehydrogenases; Adipates; Adult; Butyrates; Butyric Acid; Female; Fibroblasts; Humans; Hydroxybutyrates; Lactates; Lactic Acid; Lipid Metabolism, Inborn Errors; Malonates; Succinates

1987
The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts.
    The Journal of clinical investigation, 1986, Volume: 78, Issue:1

    Topics: Acyl Coenzyme A; Acyl-CoA Dehydrogenases; Adipates; Animals; Caprylates; Electron Transport; Electron-Transferring Flavoproteins; Fatty Acids; Fibroblasts; Flavin-Adenine Dinucleotide; Flavoproteins; Glutarates; Lipid Metabolism, Inborn Errors; Liver; Malonates; Mitochondria; Palmitoyl Coenzyme A; Succinates; Succinic Acid; Swine

1986