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lactic acid and Abnormalities, Multiple

lactic acid has been researched along with Abnormalities, Multiple in 2 studies

Lactic Acid: A normal intermediate in the fermentation (oxidation, metabolism) of sugar. The concentrated form is used internally to prevent gastrointestinal fermentation. (From Stedman, 26th ed)
2-hydroxypropanoic acid : A 2-hydroxy monocarboxylic acid that is propanoic acid in which one of the alpha-hydrogens is replaced by a hydroxy group.

Abnormalities, Multiple: Congenital abnormalities that affect more than one organ or body structure.

Research Excerpts

ExcerptRelevanceReference
"Isolated pyruvate carboxylase deficiency was found to present in two different forms, one with lactic acidaemia and mental retardation, the other with lactic acidaemia, hyperammonaemia citrullinaemia and hyperlysinaemia."1.27Lactic acidaemia. ( Robinson, BH; Sherwood, WG, 1984)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19901 (50.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (50.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Szklarczyk, R1
Wanschers, BF1
Nijtmans, LG1
Rodenburg, RJ1
Zschocke, J1
Dikow, N1
van den Brand, MA1
Hendriks-Franssen, MG1
Gilissen, C1
Veltman, JA1
Nooteboom, M1
Koopman, WJ1
Willems, PH1
Smeitink, JA1
Huynen, MA1
van den Heuvel, LP1
Robinson, BH1
Sherwood, WG1

Other Studies

2 other studies available for lactic acid and Abnormalities, Multiple

ArticleYear
A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
    Human molecular genetics, 2013, Feb-15, Volume: 22, Issue:4

    Topics: Abnormalities, Multiple; Amino Acid Sequence; Animals; Ataxia; Base Sequence; Cells, Cultured; Child

2013
Lactic acidaemia.
    Journal of inherited metabolic disease, 1984, Volume: 7 Suppl 1

    Topics: Abnormalities, Multiple; Child; Humans; Lactates; Lactic Acid; Metabolism, Inborn Errors; Pyruvate C

1984