serine has been researched along with Lesch-Nyhan Syndrome in 2 studies
Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.
Lesch-Nyhan Syndrome: An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 2 (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 | Studies |
---|---|
Giliberti, P | 1 |
Pignero, A | 1 |
Tancredi, F | 1 |
Peterson, JA | 1 |
2 other studies available for serine and Lesch-Nyhan Syndrome
Article | Year |
---|---|
[Folic acid metabolism in Lesch-Nythan syndrome].
Topics: Folic Acid; Glycine; Histidine; Humans; Lesch-Nyhan Syndrome; Methionine; Serine | 1977 |
Cell hybridization.
Topics: Cell Division; Cell Fusion; Cell Line; Culture Media; Culture Techniques; Guanine; Humans; Hybrid Ce | 1974 |