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methylmalonic acid and Purine Pyrimidine Metabolism, Inborn Errors

methylmalonic acid has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 3 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 (3)

TimeframeStudies, this research(%)All Research%
pre-19902 (66.67)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (33.33)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Marcadier, JL1
Smith, AM1
Pohl, D1
Schwartzentruber, J1
Al-Dirbashi, OY1
Majewski, J1
Ferdinandusse, S1
Wanders, RJ1
Bulman, DE1
Boycott, KM1
Chakraborty, P1
Geraghty, MT1
Snyderman, SE1
Zakim, D1

Reviews

2 reviews available for methylmalonic acid and Purine Pyrimidine Metabolism, Inborn Errors

ArticleYear
The dietary therapy of inherited metabolic disease.
    Progress in food & nutrition science, 1975, Volume: 1, Issue:7-8

    Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Child; C

1975
Biochemical foundations of preventive medicine: the study of abnormal enzymes.
    Horizons in biochemistry and biophysics, 1974, Volume: 1

    Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine; Cystathionine gamma-Lyase; Erythrocytes; Genes,

1974

Other Studies

1 other study available for methylmalonic acid and Purine Pyrimidine Metabolism, Inborn Errors

ArticleYear
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
    Orphanet journal of rare diseases, 2013, Jul-09, Volume: 8

    Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Exome; Female; Humans; Methylmalonate-Semial

2013