ethylmalonic acid has been researched along with Brain Disorders in 4 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (25.00) | 18.2507 |
| 2000's | 3 (75.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Di Meo, I; Fagiolari, G; Hildebrandt, T; Levitt, MD; Mineri, R; Prelle, A; Rimoldi, M; Tiranti, V; Tiveron, C; Viscomi, C; Zeviani, M | 1 |
| Balestri, P; Briem, E; D'Adamo, P; Dionisi-Vici, C; Ferrari, G; Garavaglia, B; Garcia-Silva, MT; Gasparini, P; Hahn, SH; Lamantea, E; Leonard, J; Mandel, H; Mineri, R; Rahman, S; Rinaldo, P; Tiranti, V; Vollmer, B; Zeviani, M | 1 |
| 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, C | 1 |
| Boutron, A; Brivet, M; Haengeli, CA; Khellaf, A; Lemonnier, A; Rocchiccioli, F; Tardieu, M | 1 |
4 other study(ies) available for ethylmalonic acid and Brain Disorders
| Article | Year |
|---|---|
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.
Topics: Animals; Base Sequence; Brain Diseases; Dioxygenases; DNA Primers; HeLa Cells; Humans; Malonates; Mice; Mice, Knockout; Mitochondria; Mitochondrial Proteins; Nucleocytoplasmic Transport Proteins; Polymerase Chain Reaction; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Sulfides | 2009 |
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
Topics: Amino Acid Sequence; Blotting, Western; Brain Diseases; Cells, Cultured; Chromosome Mapping; Chromosomes, Human, Pair 19; Female; Fluorescent Antibody Technique; Genetic Linkage; Humans; Infant; Male; Malonates; Metabolism, Inborn Errors; Mitochondrial Proteins; Molecular Sequence Data; Mutation; Nucleocytoplasmic Transport Proteins; Pedigree; Sequence Homology, Amino Acid | 2004 |
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.
Topics: Brain Diseases; Butyryl-CoA Dehydrogenase; Carnitine; Humans; Malonates; Mitochondrial Proteins; Nervous System Diseases; Nucleocytoplasmic Transport Proteins | 2006 |
Riboflavin responsive ethylmalonic-adipic aciduria in a 9-month-old boy with liver cirrhosis, myopathy and encephalopathy.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Adipates; Brain Diseases; Fatty Acids; Female; Fibroblasts; Humans; Infant; Liver Cirrhosis; Malonates; Metabolism, Inborn Errors; Muscular Diseases; Myristic Acid; Myristic Acids; Oxidation-Reduction; Palmitic Acid; Palmitic Acids; Riboflavin | 1991 |