pyridoxal and Homocystinuria
pyridoxal has been researched along with Homocystinuria in 1 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)
Research
Studies (1)
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (100.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
Authors
| Authors | Studies |
|---|---|
| Kim, YJ | 1 |
| Rosenberg, LE | 1 |
Other Studies
1 other study available for pyridoxal and Homocystinuria
| Article | Year |
|---|---|
On the mechanism of pyridoxine responsive homocystinuria. II. Properties of normal and mutant cystathionine beta-synthase from cultured fibroblasts.
Topics: Adult; Carbon Radioisotopes; Cells, Cultured; Child; Cystathionine; Enzyme Activation; Fibroblasts; | 1974 |