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lactic acid and Abnormalities, Sex Chromosome

lactic acid has been researched along with Abnormalities, Sex Chromosome 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.

Research Excerpts

ExcerptRelevanceReference
"The majority of patients with PDHC deficiency have abnormalities in the major catalytic and regulatory subunit, E1 alpha, which is encoded on the X chromosome."1.29Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency. ( Arnold, DL; Brown, GK; Brown, RM; Legris, M; Matthews, PM; Otero, LJ; Scriver, CR; Shevell, MI, 1994)
"Despite regional variability of demyelination, proton magnetic resonance spectroscopy revealed a specific metabolic pattern in all patients, with only moderate reduction of N-acetylaspartate, normal or reduced choline-containing compounds, normal or enhanced myo-inositol and no detectable lactate, which differs from findings in progressive cerebral adrenoleukodystrophy which usually exhibits a severe reduction of N-acetylaspartate and marked increases of choline-containing compounds, myo-inositol, and lactate."1.29Arrested cerebral adrenoleukodystrophy: a clinical and proton magnetic resonance spectroscopy study in three patients. ( Frahm, J; Hanefeld, F; Hunneman, DH; Jost, W; Korenke, GC; Krasemann, E; Pouwels, PJ; Stoeckler, S, 1996)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (100.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Shevell, MI1
Matthews, PM1
Scriver, CR1
Brown, RM1
Otero, LJ1
Legris, M1
Brown, GK1
Arnold, DL1
Korenke, GC1
Pouwels, PJ1
Frahm, J1
Hunneman, DH1
Stoeckler, S1
Krasemann, E1
Jost, W1
Hanefeld, F1

Other Studies

2 other studies available for lactic acid and Abnormalities, Sex Chromosome

ArticleYear
Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency.
    Pediatric neurology, 1994, Volume: 11, Issue:3

    Topics: Acidosis, Lactic; Agenesis of Corpus Callosum; Brain; Brain Damage, Chronic; Brain Diseases, Metabol

1994
Arrested cerebral adrenoleukodystrophy: a clinical and proton magnetic resonance spectroscopy study in three patients.
    Pediatric neurology, 1996, Volume: 15, Issue:2

    Topics: Aspartic Acid; Brain; Brain Diseases, Metabolic; Child; Choline; Demyelinating Diseases; Female; Hum

1996