homogentisic acid has been researched along with Genetic Predisposition in 3 studies
Homogentisic Acid: Dihydroxyphenylacetic acid with hydroxyls at the 2 and 5 positions of the phenyl ring.
homogentisic acid : A dihydroxyphenylacetic acid having the two hydroxy substituents at the 2- and 5-positions.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Alkaptonuria is a rare, autosomal-recessive disease of tyrosine degradation resulting from accumulation of homogentisic acid (HGA) within the body due to deficiency of the hepatic enzyme homogentisate 1,2-dioxygenase[1]." | 3.76 | Ashy ears. ( Kintzoglou, S; Rallis, E, 2010) |
| "All affected individuals presented with typical features of AKU including darkening of the urine, ochronosis, arthropathy, and elevated urinary excretion of homogentisic acid." | 3.74 | Three-generational alkaptonuria in a non-consanguineous family. ( Engel, K; Haas, D; Lee-Kirsch, MA; Oexle, K; Tinschert, S, 2008) |
| 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 |
|---|---|
| Oexle, K | 1 |
| Engel, K | 1 |
| Tinschert, S | 1 |
| Haas, D | 1 |
| Lee-Kirsch, MA | 1 |
| Rallis, E | 1 |
| Kintzoglou, S | 1 |
| ter Borg, EJ | 1 |
3 other studies available for homogentisic acid and Genetic Predisposition
| Article | Year |
|---|---|
Three-generational alkaptonuria in a non-consanguineous family.
Topics: Adult; Aged; Alkaptonuria; Biomarkers; DNA Mutational Analysis; Female; Gene Frequency; Genetic Pred | 2008 |
Ashy ears.
Topics: Alkaptonuria; Ear; Genetic Predisposition to Disease; Homogentisate 1,2-Dioxygenase; Homogentisic Ac | 2010 |
[Diagnostic image (45). Ochronosis].
Topics: Aged; Dioxygenases; Ear Cartilage; Female; Genetic Predisposition to Disease; Homogentisate 1,2-Diox | 2001 |