ethylmalonic acid has been researched along with Inborn Errors of Metabolism in 18 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 3 (16.67) | 18.7374 |
| 1990's | 7 (38.89) | 18.2507 |
| 2000's | 6 (33.33) | 29.6817 |
| 2010's | 2 (11.11) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Abu-Elheiga, LA; Ambati, CS; Shetty, V; Yuan, F; Zhang, Y | 1 |
| Andresen, BS; Bolund, L; Bross, P; Christensen, E; Corydon, TJ; Ensenauer, R; Gregersen, N; Kjeldsen, M; Kølvraa, A; Kølvraa, S; Lehnert, W; Matern, D; Pedersen, CB; Ribes, A; Rinaldo, P; Stenbroen, V; Tein, I; Vang, S; Vianey-Saban, C; Vockley, J | 1 |
| Gregersen, N; Kjeldsen, M; Palmfeldt, J; Pedersen, CB; Ruiter, JP; Schmidt, SP; Stenbroen, V; Tein, I; Vang, S; Wanders, RJ; Wibrand, F; Zolkipli, Z | 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 |
| Matern, D; Rinaldo, P; Tortorelli, S | 1 |
| Gordon, N | 1 |
| Duran, M; Hogeveen, M; Ijlst, L; Niezen-Koning, KE; van Maldegem, BT; Wanders, RJ; Waterham, HR; Wijburg, FA | 1 |
| Bruinvis, L; Duran, M; Wadman, SK; Walther, FJ | 1 |
| al Odaib, A; Gascon, GG; Hazzaa, S; Mazrou, A; Millington, DS; Ozand, PT; Rahbeeni, Z; Rashed, M; Sakati, N; Youssef, N | 1 |
| Blaser, SI; Clarke, JT; Nowaczyk, MJ | 1 |
| Clarke, JT; Fisher, L; Lehotay, DC; Nowaczyk, MJ; Phillips, H; Platt, BA; Tan, R | 1 |
| al-Essa, MA; al-Shamsan, LA; Ozand, PT | 1 |
| Birkebaek, NH; Gregersen, N; Simonsen, H | 1 |
| Boutron, A; Brivet, M; Haengeli, CA; Khellaf, A; Lemonnier, A; Rocchiccioli, F; Tardieu, M | 1 |
| Gargus, JJ; O'Shea, JJ; Previs, SF; Rinaldo, P; Schmidt-Sommerfeld, E; Welch, RD; Zinn, AB | 1 |
| Eber, SW; Hanefeld, F; Hoffmann, GF; Hunneman, DH; Jakobs, C; Rating, D; Reichmann, H; Wilichowski, E | 1 |
| Charpentier, C; Coudé, M; Divry, P; Harpey, JP; Paturneau-Jouas, M | 1 |
| Bennett, MJ; Gray, RG; Green, A; Marshall, TG; Pollitt, RJ | 1 |
1 review(s) available for ethylmalonic acid and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Recent developments and new applications of tandem mass spectrometry in newborn screening.
Topics: Adrenal Hyperplasia, Congenital; Calcium-Binding Proteins; Humans; Infant, Newborn; Malonates; Mass Screening; Mass Spectrometry; Metabolism, Inborn Errors; Neonatal Screening; Organic Anion Transporters; Oxidoreductases; Predictive Value of Tests | 2004 |
17 other study(ies) available for ethylmalonic acid and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics.
Topics: Animals; Biomarkers; Carboxy-Lyases; Female; Humans; Limit of Detection; Male; Malonates; Malonyl Coenzyme A; Mass Spectrometry; Metabolism, Inborn Errors; Metabolomics; Methylmalonic Acid; Mice, Inbred C57BL; Phenylhydrazines | 2017 |
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.
Topics: Animals; Butyryl-CoA Dehydrogenase; Dimerization; Enzyme Activation; Gene Frequency; Humans; Malonates; Metabolism, Inborn Errors; Mice; Mice, Inbred BALB C; Mice, Knockout; Models, Molecular; Mutation, Missense; Polymorphism, Single Nucleotide; Protein Binding; Protein Folding; Structure-Activity Relationship | 2008 |
Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria.
Topics: Antioxidants; Butyryl-CoA Dehydrogenase; Cell Survival; Child, Preschool; Chromatography, Liquid; Fibroblasts; Homozygote; Humans; Malonates; Mass Spectrometry; Metabolism, Inborn Errors; Mitochondria; Models, Genetic; Oxidative Stress; Proteomics; Risk Factors | 2010 |
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 |
Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement.
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 |
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.
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 |
The urinary excretion of ethylmalonic acid: what level requires further attention?
Topics: Acetyl-CoA C-Acyltransferase; Acidosis; Child; Female; Humans; Infant, Newborn; Male; Malonates; Metabolism, Inborn Errors | 1983 |
Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy.
Topics: Acidosis; Brain Edema; Female; Fibroblasts; Gas Chromatography-Mass Spectrometry; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Malonates; Mass Spectrometry; Metabolism, Inborn Errors; Nervous System Diseases; Pedigree; Tomography, X-Ray Computed; Vascular Diseases | 1994 |
Central nervous system malformations in ethylmalonic encephalopathy.
Topics: Abnormalities, Multiple; Brain; Child, Preschool; Female; Growth Disorders; Humans; Magnetic Resonance Imaging; Male; Malonates; Metabolism, Inborn Errors; Spine; Succinates | 1998 |
Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism.
Topics: Administration, Oral; Brain; Cells, Cultured; Child, Preschool; Female; Fibroblasts; Glycine; Humans; Isoleucine; Malonates; Metabolism, Inborn Errors; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Succinates | 1998 |
Clinical and brain 18fluoro-2-deoxyglucose positron emission tomographic findings in ethylmalonic aciduria, a progressive neurometabolic disease.
Topics: Caudate Nucleus; Child, Preschool; Fluorodeoxyglucose F18; Frontal Lobe; Humans; Magnetic Resonance Imaging; Male; Malonates; Metabolism, Inborn Errors; Neurodegenerative Diseases; Putamen; Radiopharmaceuticals; Tomography, Emission-Computed | 1999 |
Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G > A gene variation.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Genetic Variation; Homozygote; Humans; Hypoglycemia; Infant; Male; Malonates; Metabolism, Inborn Errors | 2002 |
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 |
Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines.
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.
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 |
Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency.
Topics: Acyl-CoA Dehydrogenase; Adipates; Carnitine; Fatty Acid Desaturases; Humans; Infant; Infant, Newborn; Malonates; Metabolism, Inborn Errors; Risk; Sudden Infant Death | 1987 |
Riboflavin-responsive ethylmalonic-adipic aciduria.
Topics: Adipates; Butyrates; Cells, Cultured; Fibroblasts; Humans; Infant; Male; Malonates; Metabolism, Inborn Errors; Riboflavin | 1985 |