gamma-aminobutyric acid has been researched along with Genetic Diseases, Inborn in 3 studies
gamma-Aminobutyric Acid: The most common inhibitory neurotransmitter in the central nervous system.
gamma-aminobutyric acid : A gamma-amino acid that is butanoic acid with the amino substituent located at C-4.
Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
| Excerpt | Relevance | Reference |
|---|---|---|
| "An abnormality in the pyridoxal-5'-phosphate (PLP) dependent enzyme, glutamic acid decarboxylase (GAD), which synthesizes gamma-aminobutyric acid (GABA), may underlie the epileptic syndrome of pyridoxine-dependent seizures." | 7.69 | Reduced GABA synthesis in pyridoxine-dependent seizures. ( Gospe, SM; Keen, CL; Olin, KL, 1994) |
| "An abnormality in the pyridoxal-5'-phosphate (PLP) dependent enzyme, glutamic acid decarboxylase (GAD), which synthesizes gamma-aminobutyric acid (GABA), may underlie the epileptic syndrome of pyridoxine-dependent seizures." | 3.69 | Reduced GABA synthesis in pyridoxine-dependent seizures. ( Gospe, SM; Keen, CL; Olin, KL, 1994) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 2 (66.67) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 1 (33.33) | 2.80 |
| Authors | Studies |
|---|---|
| Taneda, T | 1 |
| Okawara, S | 1 |
| Namekawa, M | 1 |
| Umeda, Y | 1 |
| Oyake, M | 1 |
| Fujita, N | 1 |
| Gospe, SM | 1 |
| Olin, KL | 1 |
| Keen, CL | 1 |
| Blasi, C | 1 |
| Jeanrenaud, B | 1 |
3 other studies available for gamma-aminobutyric acid and Genetic Diseases, Inborn
| Article | Year |
|---|---|
[Isolated ACTH deficiency clinically presented as stiff-person syndrome, successfully treated by hormonal replacement: a case report].
Topics: Adrenocorticotropic Hormone; Aged; Aminobutyrates; Autoantibodies; Contracture; Endocrine System Dis | 2022 |
Reduced GABA synthesis in pyridoxine-dependent seizures.
Topics: Administration, Oral; Electroencephalography; Female; Fibroblasts; gamma-Aminobutyric Acid; Genetic | 1994 |
Insulin resistance syndrome: defective GABA neuromodulation as a possible hereditary pathogenetic factor (the 'GABA hypothesis').
Topics: Animals; Brain; Cardiovascular Diseases; gamma-Aminobutyric Acid; Genetic Diseases, Inborn; Humans; | 1993 |