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.
Excerpt | Relevance | Reference |
---|---|---|
" 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." | 3.91 | A 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) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 2 (66.67) | 29.6817 |
2010's | 1 (33.33) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Wang, W | 1 |
Yang, J | 1 |
Xue, J | 1 |
Mu, W | 1 |
Zhang, X | 1 |
Wu, W | 1 |
Xu, M | 1 |
Gong, Y | 1 |
Liu, Y | 1 |
Zhang, Y | 1 |
Xie, X | 1 |
Gu, W | 1 |
Bai, J | 1 |
Cram, DS | 1 |
Waisbren, SE | 1 |
Rones, M | 1 |
Read, CY | 1 |
Marsden, D | 1 |
Levy, HL | 1 |
Bal, D | 1 |
Kraska-Dziadecka, A | 1 |
Gradowska, W | 1 |
Gryff-Keller, A | 1 |
3 other studies available for glutaric acid and BH4 Deficiency
Article | Year |
---|---|
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
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.
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.
Topics: Biomarkers; Canavan Disease; Glutarates; Hemiterpenes; Humans; Lactic Acid; Magnetic Resonance Spect | 2008 |