carnitine 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 |
|---|---|---|
| "Reports of argininemia from mainland China are few, and genetic analyses have not been reported." | 1.39 | Five novel mutations in ARG1 gene in Chinese patients of argininemia. ( Ding, Y; Li, XY; Liu, YP; Ma, YY; Song, JQ; Wang, Q; Wu, TF; Yang, YL, 2013) |
| 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 | 1 (100.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Wu, TF | 1 |
| Liu, YP | 1 |
| Li, XY | 1 |
| Wang, Q | 1 |
| Ding, Y | 1 |
| Ma, YY | 1 |
| Song, JQ | 1 |
| Yang, YL | 1 |
1 other study available for carnitine and Hyperargininemia
| Article | Year |
|---|---|
Five novel mutations in ARG1 gene in Chinese patients of argininemia.
Topics: Amino Acids; Arginase; Asian People; Carnitine; Child; Child, Preschool; DNA Mutational Analysis; Fe | 2013 |