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hydroxymethylbilane and Genetic Diseases, X-Chromosome Linked

hydroxymethylbilane has been researched along with Genetic Diseases, X-Chromosome Linked in 1 studies

Research Excerpts

ExcerptRelevanceReference
"Mutations in the uroporphyrinogen III synthase (UROS) gene cause congenital erythropoietic porphyria (CEP), an autosomal-recessive inborn error of erythroid heme biosynthesis."3.77ALAS2 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)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
To-Figueras, J1
Ducamp, S1
Clayton, J1
Badenas, C1
Delaby, C1
Ged, C1
Lyoumi, S1
Gouya, L1
de Verneuil, H1
Beaumont, C1
Ferreira, GC1
Deybach, JC1
Herrero, C1
Puy, H1

Other Studies

1 other study available for hydroxymethylbilane and Genetic Diseases, X-Chromosome Linked

ArticleYear
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
    Blood, 2011, Aug-11, Volume: 118, Issue:6

    Topics: 5-Aminolevulinate Synthetase; Amino Acid Sequence; Anemia, Sideroblastic; Base Sequence; Child, Pres

2011
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