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methylmalonic acid and Amino Acid Transport Disorders, Inborn

methylmalonic acid has been researched along with Amino Acid Transport Disorders, Inborn 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.

Amino Acid Transport Disorders, Inborn: Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epithelial cell membranes of the small intestine (MICROVILLI) and KIDNEY TUBULES; transport across the basolateral membrane; and transport across the membranes of intracellular organelles. (From Nippon Rinsho 1992 Jul;50(7):1587-92)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Heringer, J1
Valayannopoulos, V1
Lund, AM1
Wijburg, FA1
Freisinger, P1
Barić, I1
Baumgartner, MR1
Burgard, P1
Burlina, AB1
Chapman, KA1
I Saladelafont, EC1
Karall, D1
Mühlhausen, C1
Riches, V1
Schiff, M1
Sykut-Cegielska, J1
Walter, JH1
Zeman, J1
Chabrol, B1
Kölker, S1

Other Studies

1 other study available for methylmalonic acid and Amino Acid Transport Disorders, Inborn

ArticleYear
Impact of age at onset and newborn screening on outcome in organic acidurias.
    Journal of inherited metabolic disease, 2016, Volume: 39, Issue:3

    Topics: Adolescent; Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Disorder

2016