methylmalonic acid has been researched along with Chromosomal Triplication 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.
Excerpt | Relevance | Reference |
---|---|---|
"The occurrence of non-mosaic double trisomy is exceptional in newborns." | 1.35 | Double aneuploidy (48,XXY,+21) of maternal origin in a child born to a 13-year-old mother: evaluation of the maternal folate metabolism. ( Alves da Silva, AF; Biselli, JM; Carvalho, VM; Eberlin, MN; Goloni-Bertollo, EM; Haddad, R; Machado, FB; Medina-Acosta, E; Pavarino-Bertelli, EC; Vannucchi, H; Zampieri, BL, 2009) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 1 (50.00) | 18.2507 |
2000's | 1 (50.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Biselli, JM | 1 |
Machado, FB | 1 |
Zampieri, BL | 1 |
Alves da Silva, AF | 1 |
Goloni-Bertollo, EM | 1 |
Haddad, R | 1 |
Eberlin, MN | 1 |
Vannucchi, H | 1 |
Carvalho, VM | 1 |
Medina-Acosta, E | 1 |
Pavarino-Bertelli, EC | 1 |
Dorchy, H | 1 |
2 other studies available for methylmalonic acid and Chromosomal Triplication
Article | Year |
---|---|
Double aneuploidy (48,XXY,+21) of maternal origin in a child born to a 13-year-old mother: evaluation of the maternal folate metabolism.
Topics: Adolescent; Alleles; Aneuploidy; Brazil; Chromosomes, Human, X; Chromosomes, Human, Y; DNA Mutationa | 2009 |
[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 |