glyoxylic acid has been researched along with Genetic Diseases, Inborn in 1 studies
glyoxylic acid: RN given refers to parent cpd
glyoxylic acid : A 2-oxo monocarboxylic acid that is acetic acid bearing an oxo group at the alpha carbon atom.
Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
| Excerpt | Relevance | Reference |
|---|---|---|
| "AGT deficiency causes primary hyperoxaluria type 1 (PH1), a rare autosomal recessive disorder, due to a marked increase in hepatic oxalate production." | 1.35 | Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation. ( Cellini, B; Lorenzetto, A; Montioli, R; Paiardini, A; Voltattorni, CB, 2009) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Cellini, B | 1 |
| Montioli, R | 1 |
| Paiardini, A | 1 |
| Lorenzetto, A | 1 |
| Voltattorni, CB | 1 |
1 other study available for glyoxylic acid and Genetic Diseases, Inborn
| Article | Year |
|---|---|
Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation.
Topics: Alleles; Amino Acid Substitution; Genetic Diseases, Inborn; Glycine; Glyoxylates; Humans; Hyperoxalu | 2009 |