ethylmalonic acid has been researched along with Lipid Metabolism, Inborn Error in 13 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (15.38) | 18.7374 |
| 1990's | 4 (30.77) | 18.2507 |
| 2000's | 2 (15.38) | 29.6817 |
| 2010's | 3 (23.08) | 24.3611 |
| 2020's | 2 (15.38) | 2.80 |
| Authors | Studies |
|---|---|
| Basinger, A; De Biase, I; Hernandez, A; Yuzyuk, T | 1 |
| 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, M | 1 |
| Cheon, CK; Kim, GH; Kim, YM; Ko, JM; Lee, KA; Park, KH; Park, S; Yoo, HW | 1 |
| Biberoglu, G; Ezgü, FS; Okuyaz, C; Tiranti, V; Yilgör, E; Zeviani, M | 1 |
| Duran, M; van Maldegem, BT; Wanders, RJ; Waterham, HR; Wijburg, FA | 1 |
| 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, RY | 1 |
| Fu, X; Hahn, SH; Kodama, H; Packman, S; Rinaldo, P | 1 |
| Bhala, A; Böhles, H; Hale, DE; Herwig, J; Rinaldo, P; Sewell, AC | 1 |
| 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, V | 1 |
| Elias, E; Gray, RG; Green, A; Poulton, K | 1 |
| Charpentier, C; Harpey, JP; Paturneau-Jouas, M | 1 |
| Amendt, BA; Cloherty, J; Greene, C; Moon, A; Rhead, WJ; Shih, V; Sweetman, L; Teel, L | 1 |
| Amendt, BA; Rhead, WJ | 1 |
1 review(s) available for ethylmalonic acid and Lipid Metabolism, Inborn Error
| Article | Year |
|---|---|
Sudden infant death syndrome and inherited disorders of fatty acid beta-oxidation.
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 |
1 trial(s) available for ethylmalonic acid and Lipid Metabolism, Inborn Error
| Article | Year |
|---|---|
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency.
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 |
11 other study(ies) available for ethylmalonic acid and Lipid Metabolism, Inborn Error
| Article | Year |
|---|---|
An Unusually High Excretion of Ethylmalonic Acid in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency.
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?
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.
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.
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.
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.
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.
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.
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.
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.
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.
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 |