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malonic acid and Disomy, Uniparental

malonic acid has been researched along with Disomy, Uniparental in 1 studies

malonic acid : An alpha,omega-dicarboxylic acid in which the two carboxy groups are separated by a single methylene group.
dicarboxylic acid : Any carboxylic acid containing two carboxy groups.

Research Excerpts

ExcerptRelevanceReference
"Malonic aciduria is a rare autosomal recessive disorder caused by deficiency of malonyl-CoA decarboxylase, encoded by the MLYCD gene."1.34Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16. ( Ciani, F; Donati, MA; Genuardi, M; la Marca, G; Malvagia, S; Morrone, A; Papi, L; Pasquini, E; Scholte, HR; Zammarchi, E, 2007)

Research

Studies (1)

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

Authors

AuthorsStudies
Malvagia, S1
Papi, L1
Morrone, A1
Donati, MA1
Ciani, F1
Pasquini, E1
la Marca, G1
Scholte, HR1
Genuardi, M1
Zammarchi, E1

Other Studies

1 other study available for malonic acid and Disomy, Uniparental

ArticleYear
Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16.
    Annals of human genetics, 2007, Volume: 71, Issue:Pt 6

    Topics: Base Sequence; Carboxy-Lyases; Chromosomes, Human, Pair 16; DNA Mutational Analysis; DNA Primers; Fa

2007