Page last updated: 2024-10-18

glutaric acid and BH4 Deficiency

glutaric acid has been researched along with BH4 Deficiency in 3 studies

glutaric acid: RN given refers to parent cpd
glutaric acid : An alpha,omega-dicarboxylic acid that is a linear five-carbon dicarboxylic acid.

Research Excerpts

ExcerptRelevanceReference
" Testing of 8 true positive MS MS samples correctly identified potentially pathogenic compound heterozygote genotypes in 2 cases of citrullinemia type 1 and one case each of methylmalonic acidemia, isobutyryl-CoA dehydrogenase deficiency, short chain acyl-CoA dehydrogenase deficiency and glutaric acid type II and heterozygous genotypes in 2 cases of autosomal dominant methioninemia."3.91A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism. ( Bai, J; Cram, DS; Gong, Y; Gu, W; Liu, Y; Mu, W; Wang, W; Wu, W; Xie, X; Xu, M; Xue, J; Yang, J; Zhang, X; Zhang, Y, 2019)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (66.67)29.6817
2010's1 (33.33)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Wang, W1
Yang, J1
Xue, J1
Mu, W1
Zhang, X1
Wu, W1
Xu, M1
Gong, Y1
Liu, Y1
Zhang, Y1
Xie, X1
Gu, W1
Bai, J1
Cram, DS1
Waisbren, SE1
Rones, M1
Read, CY1
Marsden, D1
Levy, HL1
Bal, D1
Kraska-Dziadecka, A1
Gradowska, W1
Gryff-Keller, A1

Other Studies

3 other studies available for glutaric acid and BH4 Deficiency

ArticleYear
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
    BMC medical genetics, 2019, 01-06, Volume: 20, Issue:1

    Topics: Acyl-CoA Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Citrullinemia; Exome; Exome Sequencing

2019
Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders.
    Journal of pediatric psychology, 2004, Volume: 29, Issue:7

    Topics: Adult; Child; Female; Galactosemias; Glutarates; Humans; Male; Parenting; Parents; Phenylketonurias;

2004
Investigation of a wide spectrum of inherited metabolic disorders by 13C NMR spectroscopy.
    Acta biochimica Polonica, 2008, Volume: 55, Issue:1

    Topics: Biomarkers; Canavan Disease; Glutarates; Hemiterpenes; Humans; Lactic Acid; Magnetic Resonance Spect

2008