alanine has been researched along with Rett Syndrome in 4 studies
Alanine: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.
alanine : An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2.
Rett Syndrome: An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Male patients with Rett syndrome are extremely rare, as the Rett-causing mutations in the MECP2 gene are usually lethal in hemizygous males." | 1.31 | Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening? ( Errijgers, V; Frank Kooy, R; Hayez-Delatte, F; Reyniers, E; Winnepenninckx, B, 2002) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 2 (50.00) | 18.2507 |
| 2000's | 2 (50.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Winnepenninckx, B | 1 |
| Errijgers, V | 1 |
| Hayez-Delatte, F | 1 |
| Reyniers, E | 1 |
| Frank Kooy, R | 1 |
| Haas, RH | 1 |
| Light, M | 1 |
| Rice, M | 1 |
| Barshop, BA | 1 |
| Free, A | 1 |
| Wakefield, RI | 1 |
| Smith, BO | 1 |
| Dryden, DT | 1 |
| Barlow, PN | 1 |
| Bird, AP | 1 |
| Carpenter, KH | 1 |
| Bonham, JR | 1 |
| Clarke, A | 1 |
4 other studies available for alanine and Rett Syndrome
| Article | Year |
|---|---|
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?
Topics: Alanine; Amino Acid Substitution; Child, Preschool; Chromosomal Proteins, Non-Histone; Chromosomes, | 2002 |
Oxidative metabolism in Rett syndrome: 1. Clinical studies.
Topics: Adolescent; Alanine; Blood Glucose; Child; Child, Preschool; Electrocardiography; Female; Humans; La | 1995 |
DNA recognition by the methyl-CpG binding domain of MeCP2.
Topics: Alanine; Amino Acid Substitution; Arginine; Aspartic Acid; Chromosomal Proteins, Non-Histone; CpG Is | 2001 |
Rett's syndrome and ornithine carbamoyltransferase deficiency.
Topics: Alanine; Ammonia; Female; Humans; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Re | 1990 |