glutaric acid has been researched along with Argininosuccinate Synthase Deficiency Disease in 1 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 |
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" 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 | 0 (0.00) | 29.6817 |
2010's | 1 (100.00) | 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 |
1 other study available for glutaric acid and Argininosuccinate Synthase Deficiency Disease
Article | Year |
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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 |