cytosine has been researched along with Homocystinuria in 2 studies
Homocystinuria: Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 2 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Vilaseca, MA | 1 |
| Vilarinho, L | 1 |
| Zavadakova, P | 1 |
| Vela, E | 1 |
| Cleto, E | 1 |
| Pineda, M | 1 |
| Coimbra, E | 1 |
| Suormala, T | 1 |
| Fowler, B | 1 |
| Kozich, V | 1 |
| Goyette, P | 1 |
| Rozen, R | 1 |
2 other studies available for cytosine and Homocystinuria
| Article | Year |
|---|---|
CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene.
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.
Topics: Alanine; Alleles; Amino Acid Substitution; Catalytic Domain; Cytosine; Enzyme Activation; Gene Expre | 2000 |