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3-hydroxyisobutyric acid and Inborn Errors of Metabolism

3-hydroxyisobutyric acid has been researched along with Inborn Errors of Metabolism in 4 studies

3-hydroxyisobutyric acid: RN given refers to cpd without isomeric designation
3-hydroxyisobutyric acid : A 4-carbon, branched hydroxy fatty acid and intermediate in the metabolism of valine.

Research Excerpts

ExcerptRelevanceReference
"3-Hydroxyisobutyric aciduria is a rare biochemical finding associated with a variable clinical phenotype in the literature."1.313-Hydroxyisobutyric aciduria: phenotypic heterogeneity within a single family. ( Allen, J; Gough, R; Newbury-Ecob, R; Shield, JP, 2001)

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (25.00)18.2507
2000's3 (75.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Podebrad, F1
Heil, M1
Beck, T1
Mosandl, A1
Sewell, AC1
Böhles, H1
Sasaki, M1
Iwata, H1
Sugai, K1
Fukumizu, M1
Kimura, M1
Yamaguchi, S1
Shield, JP1
Gough, R1
Allen, J1
Newbury-Ecob, R1
Chitayat, D1
Meagher-Villemure, K1
Mamer, OA1
O'Gorman, A1
Hoar, DI1
Silver, K1
Scriver, CR1

Reviews

1 review available for 3-hydroxyisobutyric acid and Inborn Errors of Metabolism

ArticleYear
A severely brain-damaged case of 3-hydroxyisobutyric aciduria.
    Brain & development, 2001, Volume: 23, Issue:4

    Topics: Acidosis; Brain Damage, Chronic; Child; Humans; Hydroxybutyrates; Male; Metabolism, Inborn Errors

2001

Other Studies

3 other studies available for 3-hydroxyisobutyric acid and Inborn Errors of Metabolism

ArticleYear
Stereodifferentiation of 3-hydroxyisobutyric- and 3-aminoisobutyric acid in human urine by enantioselective multidimensional capillary gas chromatography-mass spectrometry.
    Clinica chimica acta; international journal of clinical chemistry, 2000, Feb-25, Volume: 292, Issue:1-2

    Topics: Aldehyde Oxidoreductases; Aminoisobutyric Acids; Case-Control Studies; Evaluation Studies as Topic;

2000
3-Hydroxyisobutyric aciduria: phenotypic heterogeneity within a single family.
    Clinical dysmorphology, 2001, Volume: 10, Issue:3

    Topics: Child; Family Health; Female; Genetic Heterogeneity; Humans; Hydroxybutyrates; Male; Metabolism, Inb

2001
Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria.
    The Journal of pediatrics, 1992, Volume: 121, Issue:1

    Topics: Amniotic Fluid; Brain; Brain Diseases; Calcinosis; Cytogenetics; Diseases in Twins; DNA Fingerprinti

1992