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methylmalonic acid and Choreoathetosis Self-Mutilation Hyperuricemia Syndrome

methylmalonic acid has been researched along with Choreoathetosis Self-Mutilation Hyperuricemia Syndrome 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.

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19901 (100.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Rozen, R1
Buhl, S1
Mohyuddin, F1
Caillibot, V1
Scriver, CR1

Other Studies

1 other study available for methylmalonic acid and Choreoathetosis Self-Mutilation Hyperuricemia Syndrome

ArticleYear
Evaluation of metabolic pathway activity in cultured skin fibroblasts and blood leukocytes.
    Clinica chimica acta; international journal of clinical chemistry, 1977, Jun-15, Volume: 77, Issue:3

    Topics: Acidosis; Adult; Cells, Cultured; Child; Child, Preschool; Female; Fibroblasts; Galactose; Galactose

1977