methylmalonic acid has been researched along with Marfan Syndrome, Type I in 1 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.
| Excerpt | Relevance | Reference |
|---|---|---|
| " Patients with the cobalamin C (CblC) defect have combined methylmalonic aciduria and homocystinuria." | 7.74 | Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). ( Blom, HJ; Heil, SG; Hogeveen, M; Kluijtmans, LA; Morava, E; van de Berg, GB; van Dijken, PJ, 2007) |
| " Patients with the cobalamin C (CblC) defect have combined methylmalonic aciduria and homocystinuria." | 3.74 | Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). ( Blom, HJ; Heil, SG; Hogeveen, M; Kluijtmans, LA; Morava, E; van de Berg, GB; van Dijken, PJ, 2007) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Heil, SG | 1 |
| Hogeveen, M | 1 |
| Kluijtmans, LA | 1 |
| van Dijken, PJ | 1 |
| van de Berg, GB | 1 |
| Blom, HJ | 1 |
| Morava, E | 1 |
1 other study available for methylmalonic acid and Marfan Syndrome, Type I
| Article | Year |
|---|---|
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).
Topics: Adolescent; Carnitine; Carrier Proteins; Child; Cysteine; Diagnosis, Differential; DNA Mutational An | 2007 |