hydroxymethylbilane has been researched along with Protoporphyria, Erythropoietic in 1 studies
Protoporphyria, Erythropoietic: An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Mutations in the uroporphyrinogen III synthase (UROS) gene cause congenital erythropoietic porphyria (CEP), an autosomal-recessive inborn error of erythroid heme biosynthesis." | 3.77 | ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. ( Badenas, C; Beaumont, C; Clayton, J; de Verneuil, H; Delaby, C; Deybach, JC; Ducamp, S; Ferreira, GC; Ged, C; Gouya, L; Herrero, C; Lyoumi, S; Puy, H; To-Figueras, J, 2011) |
| 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 |
|---|---|
| To-Figueras, J | 1 |
| Ducamp, S | 1 |
| Clayton, J | 1 |
| Badenas, C | 1 |
| Delaby, C | 1 |
| Ged, C | 1 |
| Lyoumi, S | 1 |
| Gouya, L | 1 |
| de Verneuil, H | 1 |
| Beaumont, C | 1 |
| Ferreira, GC | 1 |
| Deybach, JC | 1 |
| Herrero, C | 1 |
| Puy, H | 1 |
1 other study available for hydroxymethylbilane and Protoporphyria, Erythropoietic
| Article | Year |
|---|---|
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
Topics: 5-Aminolevulinate Synthetase; Amino Acid Sequence; Anemia, Sideroblastic; Base Sequence; Child, Pres | 2011 |