creatine has been researched along with Genetic Diseases, X-Chromosome Linked in 6 studies
| Excerpt | Relevance | Reference |
|---|---|---|
| "Cerebral creatine deficiency syndromes (CCDSs) are a group of inborn errors of creatine metabolism comprising two autosomal recessive disorders that affect the biosynthesis of creatine--i." | 8.84 | Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. ( Salomons, GS; Schutz, PW; Stockler, S, 2007) |
| "Creatine transporter deficiency was discovered in 2001 as an X-linked cause of intellectual disability characterized by cerebral creatine deficiency." | 4.90 | X-linked creatine transporter deficiency: clinical aspects and pathophysiology. ( Mancini, GM; Salomons, GS; van de Kamp, JM, 2014) |
| "Cerebral creatine deficiency syndromes (CCDSs) are a group of inborn errors of creatine metabolism comprising two autosomal recessive disorders that affect the biosynthesis of creatine--i." | 4.84 | Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. ( Salomons, GS; Schutz, PW; Stockler, S, 2007) |
| "Deficiency caused by mutations in the creatine transporter gene (SLC6A8/CT1) is an X-linked form of intellectual disability." | 3.79 | Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing. ( Cui, H; Hill, A; Sinclair, G; van Karnebeek, C; Wong, LJ; Yu, H; Zhang, VW, 2013) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 2 (33.33) | 29.6817 |
| 2010's | 4 (66.67) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Konus, I | 1 |
| Ozsoy, E | 1 |
| Turkcuoglu, P | 1 |
| Emre, S | 1 |
| Duman, F | 1 |
| Yu, H | 1 |
| van Karnebeek, C | 1 |
| Sinclair, G | 1 |
| Hill, A | 1 |
| Cui, H | 1 |
| Zhang, VW | 1 |
| Wong, LJ | 1 |
| van de Kamp, JM | 1 |
| Mancini, GM | 1 |
| Salomons, GS | 4 |
| Stockler, S | 1 |
| Schutz, PW | 1 |
| Hathaway, SC | 1 |
| Friez, M | 1 |
| Limbo, K | 1 |
| Parker, C | 1 |
| Vockley, J | 1 |
| Wood, T | 1 |
| Abdul-Rahman, OA | 1 |
| Lion-François, L | 1 |
| Cheillan, D | 1 |
| Pitelet, G | 1 |
| Acquaviva-Bourdain, C | 1 |
| Bussy, G | 1 |
| Cotton, F | 1 |
| Guibaud, L | 1 |
| Gérard, D | 1 |
| Rivier, C | 1 |
| Vianey-Saban, C | 1 |
| Jakobs, C | 1 |
| des Portes, V | 1 |
2 reviews available for creatine and Genetic Diseases, X-Chromosome Linked
| Article | Year |
|---|---|
X-linked creatine transporter deficiency: clinical aspects and pathophysiology.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases, Metabolic, Inborn; Creatine; Genetic | 2014 |
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.
Topics: Adult; Amidinotransferases; Animals; Brain Diseases, Metabolic, Inborn; Cerebellar Diseases; Child; | 2007 |
4 other studies available for creatine and Genetic Diseases, X-Chromosome Linked
| Article | Year |
|---|---|
Evaluation of Metabolite Changes in the Occipital Cortex of Patients with Idiopathic Infantile Nystagmus or Bilateral Ametropic Amblyopia by Magnetic Resonance Spectroscopy.
Topics: Adolescent; Amblyopia; Aspartic Acid; Biomarkers; Child; Child, Preschool; Choline; Creatine; Female | 2019 |
Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing.
Topics: Brain Diseases, Metabolic, Inborn; Child, Preschool; Creatine; Exons; Gene Duplication; Genetic Dise | 2013 |
X-linked creatine transporter deficiency presenting as a mitochondrial disorder.
Topics: Adolescent; Biomarkers; Creatine; Diagnosis, Differential; Genetic Diseases, X-Linked; Humans; Inclu | 2010 |
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.
Topics: Adolescent; Amidinotransferases; Brain; Brain Diseases, Metabolic, Inborn; Child; Child, Preschool; | 2006 |