scholarly article | Q13442814 |
P356 | DOI | 10.1007/S00431-006-0340-8 |
P698 | PubMed publication ID | 17186272 |
P2093 | author name string | Gajja S Salomons | |
Nanda M Verhoeven | |||
Paul E Sijens | |||
Francjan J van Spronsen | |||
Krijn T Verbruggen | |||
Siena M Goorhuis-Brouwer | |||
Roelineke J Soorani-Lunsing | |||
Wilma A Knijff | |||
P2860 | cites work | Creatine synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1. | Q24811264 |
Creatine and creatinine metabolism | Q28140735 | ||
X-linked creatine transporter defect: an overview | Q28611534 | ||
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment. | Q30770744 | ||
Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism | Q35188364 | ||
Creatine deficiency in the brain: a new, treatable inborn error of metabolism | Q42280091 | ||
Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. | Q42546271 | ||
Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation | Q43827330 | ||
Lack of creatine in muscle and brain in an adult with GAMT deficiency | Q44296117 | ||
Characterization of seven novel mutations in seven patients with GAMT deficiency | Q44860255 | ||
1H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter | Q46459478 | ||
GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis | Q48467459 | ||
Guanidinoacetate methyltransferase deficiency: new clinical features | Q48595405 | ||
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. | Q51934047 | ||
Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect. | Q52169258 | ||
A Time Frame of Critical/Sensitive Periods of Language Development | Q58303048 | ||
Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation) | Q59697138 | ||
Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency | Q75365673 | ||
P433 | issue | 9 | |
P304 | page(s) | 921-925 | |
P577 | publication date | 2006-12-21 | |
P1433 | published in | European Journal of Pediatrics | Q15755736 |
P1476 | title | Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation | |
P478 | volume | 166 |
Q37835686 | Epigenetic impacts on neurodevelopment: pathophysiological mechanisms and genetic modes of action |
Q43793505 | Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring |
Q33791877 | International Society of Sports Nutrition position stand: safety and efficacy of creatine supplementation in exercise, sport, and medicine |
Q24647533 | MeCP2, a key contributor to neurological disease, activates and represses transcription |
Q48184835 | Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology |
Q38208767 | X-linked creatine transporter deficiency: clinical aspects and pathophysiology |
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