Page last updated: 2024-10-20

thymine and CBS Deficiency

thymine has been researched along with CBS Deficiency in 2 studies

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Vilaseca, MA1
Vilarinho, L1
Zavadakova, P1
Vela, E1
Cleto, E1
Pineda, M1
Coimbra, E1
Suormala, T1
Fowler, B1
Kozich, V1
Goyette, P1
Rozen, R1

Other Studies

2 other studies available for thymine and CBS Deficiency

ArticleYear
CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene.
    Journal of inherited metabolic disease, 2003, Volume: 26, Issue:4

    Topics: Adolescent; Child; Cytosine; Female; Ferredoxin-NADP Reductase; Homocystinuria; Homozygote; Humans;

2003
The thermolabile variant 677C-->T can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductase.
    Human mutation, 2000, Volume: 16, Issue:2

    Topics: Alanine; Alleles; Amino Acid Substitution; Catalytic Domain; Cytosine; Enzyme Activation; Gene Expre

2000