glycocyamine has been researched along with Metabolism, Inborn Errors in 10 studies
glycocyamine: RN given refers to parent cpd; structure
guanidinoacetate : A monocarboxylic acid anion that is the conjugate base of guanidinoacetic acid, obtained by deprotonation of the carboxy group.
guanidinoacetic acid : The N-amidino derivative of glycine.
Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
| Excerpt | Relevance | Reference |
|---|---|---|
| "We determined creatine/creatinine ratio in urine samples from 1600 unrelated male patients with mental retardation and/or autism." | 3.74 | Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening. ( Arias, A; Artuch, R; Briones, P; Campistol, J; Corbella, M; Fons, C; García-Villoria, J; Ormazabal, A; Pàmpols, T; Pineda, M; Poo, P; Ribes, A; Salomons, GS; Sempere, A; Vilaseca, MA, 2007) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 2 (20.00) | 18.2507 |
| 2000's | 7 (70.00) | 29.6817 |
| 2010's | 1 (10.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Mercimek-Mahmutoglu, S | 2 |
| Dunbar, M | 1 |
| Friesen, A | 1 |
| Garret, S | 1 |
| Hartnett, C | 1 |
| Huh, L | 1 |
| Sinclair, G | 1 |
| Stockler, S | 1 |
| Wellington, S | 1 |
| Pouwels, PJ | 1 |
| Salomons, GS | 3 |
| Jakobs, C | 2 |
| Stromberger, C | 1 |
| Bodamer, OA | 1 |
| Stöckler-Ipsiroglu, S | 2 |
| Renema, WK | 1 |
| Schmidt, A | 1 |
| van Asten, JJ | 1 |
| Oerlemans, F | 1 |
| Ullrich, K | 1 |
| Wieringa, B | 1 |
| Isbrandt, D | 1 |
| Heerschap, A | 1 |
| Stoeckler-Ipsiroglu, S | 1 |
| Adami, A | 1 |
| Appleton, R | 1 |
| Araújo, HC | 1 |
| Duran, M | 1 |
| Ensenauer, R | 1 |
| Fernandez-Alvarez, E | 1 |
| Garcia, P | 1 |
| Grolik, C | 1 |
| Item, CB | 1 |
| Leuzzi, V | 2 |
| Marquardt, I | 1 |
| Mühl, A | 2 |
| Saelke-Kellermann, RA | 1 |
| Schulze, A | 3 |
| Surtees, R | 1 |
| van der Knaap, MS | 1 |
| Vasconcelos, R | 1 |
| Verhoeven, NM | 1 |
| Vilarinho, L | 1 |
| Wilichowski, E | 1 |
| Arias, A | 1 |
| Corbella, M | 1 |
| Fons, C | 1 |
| Sempere, A | 1 |
| García-Villoria, J | 1 |
| Ormazabal, A | 1 |
| Poo, P | 1 |
| Pineda, M | 1 |
| Vilaseca, MA | 1 |
| Campistol, J | 1 |
| Briones, P | 1 |
| Pàmpols, T | 1 |
| Ribes, A | 1 |
| Artuch, R | 1 |
| Young, S | 1 |
| Struys, E | 1 |
| Wood, T | 1 |
| Mayatepek, E | 2 |
| Rating, D | 2 |
| Bremer, HJ | 1 |
| Bachert, P | 1 |
| Marescau, B | 1 |
| De Deyn, PP | 1 |
| Ilas, J | 1 |
| Carducci, C | 2 |
| Prudente, S | 1 |
| Mercuri, L | 1 |
| Antonozzi, I | 1 |
1 review available for glycocyamine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism.
Topics: Creatine; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Metabolism, Inborn Errors; Methyltr | 2003 |
9 other studies available for glycocyamine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency.
Topics: Arginine; Child, Preschool; Diet; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Inf | 2012 |
MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: validation of an animal model to study creatine deficiency.
Topics: Animals; Brain; Brain Chemistry; Creatine; Glycine; Guanidinoacetate N-Methyltransferase; Hindlimb; | 2003 |
GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.
Topics: Adolescent; Adult; Child; Creatine; Epilepsy; Female; Glycine; Guanidinoacetate N-Methyltransferase; | 2006 |
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
Topics: Autistic Disorder; Child; Child, Preschool; Creatine; Creatinine; Glycine; Humans; Infant; Intellect | 2007 |
Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes.
Topics: Chromatography, High Pressure Liquid; Creatine; Gas Chromatography-Mass Spectrometry; Glycine; Human | 2007 |
Sakaguchi reaction: a useful method for screening guanidinoacetate-methyltransferase deficiency.
Topics: Child, Preschool; Chromatography, Thin Layer; Female; Glycine; Guanidinoacetate N-Methyltransferase; | 1996 |
Therapeutic trial of arginine restriction in creatine deficiency syndrome.
Topics: Arginine; Child, Preschool; Creatine; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; | 1998 |
Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism.
Topics: Amniotic Fluid; Cells, Cultured; Chromatography, High Pressure Liquid; Creatine; Female; Fetal Disea | 2000 |
Two new severe mutations causing guanidinoacetate methyltransferase deficiency.
Topics: Base Sequence; Cells, Cultured; Child, Preschool; Chromatography, High Pressure Liquid; Creatine; Cr | 2000 |