methylmalonic acid has been researched along with Abnormalities, Autosome in 5 studies
Methylmalonic Acid: A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.
methylmalonic acid : A dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group.
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (20.00) | 18.7374 |
| 1990's | 2 (40.00) | 18.2507 |
| 2000's | 1 (20.00) | 29.6817 |
| 2010's | 1 (20.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Prada, CE | 1 |
| Jefferies, JL | 1 |
| Grenier, MA | 1 |
| Huth, CM | 1 |
| Page, KI | 1 |
| Spicer, RL | 1 |
| Towbin, JA | 1 |
| Leslie, ND | 1 |
| Thauvin-Robinet, C | 1 |
| Roze, E | 1 |
| Couvreur, G | 1 |
| Horellou, MH | 1 |
| Sedel, F | 1 |
| Grabli, D | 1 |
| Bruneteau, G | 1 |
| Tonneti, C | 1 |
| Masurel-Paulet, A | 1 |
| Perennou, D | 1 |
| Moreau, T | 1 |
| Giroud, M | 1 |
| de Baulny, HO | 1 |
| Giraudier, S | 1 |
| Faivre, L | 1 |
| Dorchy, H | 2 |
| Abramowicz, MJ | 1 |
| Andrien, M | 1 |
| Dupont, E | 1 |
| Parma, J | 1 |
| Duprez, L | 1 |
| Ledley, FD | 1 |
| Courtens, W | 1 |
| Vamos, E | 1 |
| Tsukahara, M | 1 |
| Endo, F | 1 |
| Aoki, Y | 1 |
| Matsuo, K | 1 |
| Kajii, T | 1 |
5 other studies available for methylmalonic acid and Abnormalities, Autosome
| Article | Year |
|---|---|
Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy.
Topics: Alleles; Carboxy-Lyases; Cardiomyopathies; Carnitine; Chromosome Aberrations; Chromosome Deletion; C | 2012 |
The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases, Metabolic, Inborn; C | 2008 |
[Neonatal diabetes mellitus caused by congenital absence of beta cells associated with methylmalonic acidemia due to uniparental disomy of chromosome 6].
Topics: Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 6; Diabetes Mellitus; Humans; | 1995 |
Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.
Topics: Amino Acid Metabolism, Inborn Errors; Chromosome Aberrations; Chromosomes, Human, Pair 6; Diabetes M | 1994 |
Familial supernumerary non-satellited microchromosome.
Topics: Adult; Chromosome Aberrations; Chromosome Banding; Female; Genetic Markers; Humans; Male; Metabolism | 1986 |