methylmalonic acid has been researched along with Retinal Diseases in 2 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.
Retinal Diseases: Diseases involving the RETINA.
| Excerpt | Relevance | Reference |
|---|---|---|
| "To assess and compare longitudinal visual function and retinal morphology in patients with methylmalonic aciduria with homocystinuria, cobalamin C type (cblC), and identified mutations in the MMACHC gene." | 7.74 | Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. ( Feigenbaum, A; Gerth, C; Levin, AV; Morel, CF, 2008) |
| "To describe the retinal structure of a group of patients affected by methylmalonic aciduria with homocystinuria cblC type, caused by mutations in the MMACHC gene, using spectral domain optical coherence tomography (SD-OCT)." | 3.85 | Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients. ( Bacci, GM; Bussolin, L; Caputo, R; Cavicchi, C; Defilippi, C; Donati, MA; Garcia Segarra, N; Morrone, A; Munier, F; Murro, V; Pasquini, E; Sodi, A, 2017) |
| "To assess and compare longitudinal visual function and retinal morphology in patients with methylmalonic aciduria with homocystinuria, cobalamin C type (cblC), and identified mutations in the MMACHC gene." | 3.74 | Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. ( Feigenbaum, A; Gerth, C; Levin, AV; Morel, CF, 2008) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (50.00) | 29.6817 |
| 2010's | 1 (50.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Bacci, GM | 1 |
| Donati, MA | 1 |
| Pasquini, E | 1 |
| Munier, F | 1 |
| Cavicchi, C | 1 |
| Morrone, A | 1 |
| Sodi, A | 1 |
| Murro, V | 1 |
| Garcia Segarra, N | 1 |
| Defilippi, C | 1 |
| Bussolin, L | 1 |
| Caputo, R | 1 |
| Gerth, C | 1 |
| Morel, CF | 1 |
| Feigenbaum, A | 1 |
| Levin, AV | 1 |
2 other studies available for methylmalonic acid and Retinal Diseases
| Article | Year |
|---|---|
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.
Topics: Carrier Proteins; Child; Child, Preschool; DNA; DNA Mutational Analysis; Electroretinography; Female | 2017 |
Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.
Topics: Adolescent; Age of Onset; Anterior Eye Segment; Carrier Proteins; Child; Child, Preschool; Disease P | 2008 |