baclofen has been researched along with Hyperargininemia in 1 studies
Hyperargininemia: A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Arginineemia, also known as arginase deficiency, is a rare autosomal recessive metabolic disease." | 1.56 | A novel compound heterozygous mutation in the arginase-1 gene identified in a Chinese patient with argininemia: A case report. ( Cao, L; Cui, D; Hu, L; Jin, L; Liu, Y, 2020) |
| 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 | 0 (0.00) | 24.3611 |
| 2020's | 1 (100.00) | 2.80 |
| Authors | Studies |
|---|---|
| Cui, D | 1 |
| Liu, Y | 1 |
| Jin, L | 1 |
| Hu, L | 1 |
| Cao, L | 1 |
1 other study available for baclofen and Hyperargininemia
| Article | Year |
|---|---|
A novel compound heterozygous mutation in the arginase-1 gene identified in a Chinese patient with argininemia: A case report.
Topics: Arginase; Baclofen; Botulinum Toxins; Cerebral Palsy; Child; China; Diet, Protein-Restricted; Humans | 2020 |