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beta-hydroxyisovaleric acid and Inborn Errors of Metabolism

beta-hydroxyisovaleric acid has been researched along with Inborn Errors of Metabolism in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's4 (80.00)18.2507
2000's1 (20.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Baumgartner, MR; Baykal, T; Can, G; Dantas, MF; Demir, F; Demirkol, M; Fowler, B; Gokcay, GH; Ince, Z1
de Jong, JG; Engelke, U; Gabreƫls, FJ; Heerschap, A; Wendel, U; Wevers, RA1
Berry, SA; Nyhan, WL; Thuy, LP; Tuchman, M1
Baumgartner, ER; Lehnert, W; Niederhoff, H; Suormala, T1
Buchanan, DN; Muenzer, J; Thoene, JG1

Other Studies

5 other study(ies) available for beta-hydroxyisovaleric acid and Inborn Errors of Metabolism

ArticleYear
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:2

    Topics: Carbon-Carbon Ligases; Consanguinity; Diagnosis, Differential; Fatal Outcome; Glycine; Humans; Infant; Infant, Newborn; Leukoencephalitis, Acute Hemorrhagic; Male; Metabolism, Inborn Errors; Mutation; RNA Splice Sites; Valerates

2005
Standardized method for high-resolution 1H-NMR of cerebrospinal fluid.
    Clinical chemistry, 1995, Volume: 41, Issue:5

    Topics: Adult; Amino Acids; Canavan Disease; Carbon-Carbon Ligases; Cerebrospinal Fluid; Child; Female; Gas Chromatography-Mass Spectrometry; Histidine; Humans; Hydrogen-Ion Concentration; Lactates; Lactic Acid; Ligases; Magnetic Resonance Spectroscopy; Male; Metabolism, Inborn Errors; Sensitivity and Specificity; Valerates; Volatilization

1995
Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia.
    Pediatrics, 1993, Volume: 91, Issue:3

    Topics: Biotin; Carbon-Carbon Ligases; Failure to Thrive; Gastrointestinal Diseases; Glycine; Humans; Infant; Ligases; Male; Metabolism, Inborn Errors; Muscle Hypertonia; Valerates

1993
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset.
    European journal of pediatrics, 1996, Volume: 155, Issue:7

    Topics: Age of Onset; Biotin; Carbon-Carbon Ligases; Developmental Disabilities; Diet, Protein-Restricted; Epilepsy, Generalized; Humans; Infant, Newborn; Ligases; Male; Metabolism, Inborn Errors; Patient Compliance; Valerates

1996
Positive-ion thermospray liquid chromatography-mass spectrometry: detection of organic acidurias.
    Journal of chromatography, 1990, Dec-14, Volume: 534

    Topics: Argininosuccinic Acid; Carboxylic Acids; Chromatography, Thin Layer; Female; Humans; Infant; Infant, Newborn; Male; Mass Spectrometry; Meglutol; Metabolism, Inborn Errors; Methylmalonic Acid; Sensitivity and Specificity; Valerates

1990