Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation

scientific article published on 21 December 2006

Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1007/S00431-006-0340-8
P698PubMed publication ID17186272

P2093author name stringGajja 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
P2860cites workCreatine synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1.Q24811264
Creatine and creatinine metabolismQ28140735
X-linked creatine transporter defect: an overviewQ28611534
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.Q30770744
Clinical characteristics and diagnostic clues in inborn errors of creatine metabolismQ35188364
Creatine deficiency in the brain: a new, treatable inborn error of metabolismQ42280091
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 supplementationQ43827330
Lack of creatine in muscle and brain in an adult with GAMT deficiencyQ44296117
Characterization of seven novel mutations in seven patients with GAMT deficiencyQ44860255
1H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matterQ46459478
GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesisQ48467459
Guanidinoacetate methyltransferase deficiency: new clinical featuresQ48595405
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 DevelopmentQ58303048
Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)Q59697138
Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiencyQ75365673
P433issue9
P304page(s)921-925
P577publication date2006-12-21
P1433published inEuropean Journal of PediatricsQ15755736
P1476titleGlobal developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation
P478volume166

Reverse relations

cites work (P2860)
Q37835686Epigenetic impacts on neurodevelopment: pathophysiological mechanisms and genetic modes of action
Q43793505Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring
Q33791877International Society of Sports Nutrition position stand: safety and efficacy of creatine supplementation in exercise, sport, and medicine
Q24647533MeCP2, a key contributor to neurological disease, activates and represses transcription
Q48184835Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology
Q38208767X-linked creatine transporter deficiency: clinical aspects and pathophysiology

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