catechol has been researched along with Congenital Hypocupremia in 3 studies
| Excerpt | Relevance | Reference |
|---|---|---|
| "Menkes disease is a lethal X-linked recessive disorder of copper metabolism caused by mutations in ATP7A, a copper-transporting ATPase with diverse and important biological functions." | 2.49 | Catecholamine metabolites affected by the copper-dependent enzyme dopamine-beta-hydroxylase provide sensitive biomarkers for early diagnosis of menkes disease and viral-mediated ATP7A gene therapy. ( Holmes, CS; Kaler, SG, 2013) |
| "While Menkes disease newborns appear normal neurologically, analyses of fetal tissues including placenta indicate abnormal copper distribution and suggest a prenatal onset of the metal transport defect." | 1.38 | In utero copper treatment for Menkes disease associated with a severe ATP7A mutation. ( Centeno, JA; Gahl, WA; Goldstein, DS; Haddad, MR; Holmes, CS; Jacobson, BE; Kaler, SG; Macri, CJ; Popek, EJ, 2012) |
| 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 | 3 (100.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Kaler, SG | 3 |
| Holmes, CS | 3 |
| Møller, LB | 1 |
| Hicks, JD | 1 |
| Goldstein, DS | 2 |
| Brendl, C | 1 |
| Huppke, P | 1 |
| Haddad, MR | 1 |
| Macri, CJ | 1 |
| Jacobson, BE | 1 |
| Centeno, JA | 1 |
| Popek, EJ | 1 |
| Gahl, WA | 1 |
1 review available for catechol and Congenital Hypocupremia
| Article | Year |
|---|---|
Catecholamine metabolites affected by the copper-dependent enzyme dopamine-beta-hydroxylase provide sensitive biomarkers for early diagnosis of menkes disease and viral-mediated ATP7A gene therapy.
Topics: Adenosine Triphosphatases; Animals; Biomarkers; Catecholamines; Catechols; Cation Transport Proteins | 2013 |
2 other studies available for catechol and Congenital Hypocupremia
| Article | Year |
|---|---|
Diagnosis of copper transport disorders.
Topics: Adenosine Triphosphatases; Catechols; Cation Transport Proteins; Ceruloplasmin; Chorionic Villi Samp | 2011 |
In utero copper treatment for Menkes disease associated with a severe ATP7A mutation.
Topics: Adenosine Triphosphatases; Catechols; Cation Transport Proteins; Ceruloplasmin; Copper; Copper-Trans | 2012 |