Page last updated: 2024-10-18
hydroxymethylbilane and Genetic Diseases, X-Chromosome Linked
hydroxymethylbilane has been researched along with Genetic Diseases, X-Chromosome Linked in 1 studies
Research Excerpts
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) |
Research
Studies (1)
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
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 |
Other Studies
1 other study available for hydroxymethylbilane and Genetic Diseases, X-Chromosome Linked
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 |