Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. - Wikidata - awgldk - TriplyDB

Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.

Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.

http://www.wikidata.org/entity/Q51934047

about

MeCP2, a key contributor to neurological disease, activates and represses transcription Inborn errors of creatine metabolism and epilepsy.Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.Clinical Presentation and Microarray Analysis of Peruvian Children with Atypical Development and/or Aberrant Behavior Synaptic determinants of rett syndrome.Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms Epilepsy and inborn errors of metabolism in adults: a diagnostic approach.A Japanese adult case of guanidinoacetate methyltransferase deficiency.X-linked creatine transporter deficiency: clinical aspects and pathophysiology.Sequential chromatin immunoprecipitation to detect SUMOylated MeCP2 in neurons Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation.Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

P2860

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P2860

Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.

http://www.wikidata.org/entity/Q51934047

description

2005 nî lūn-bûn

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2005年の論文

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年學術文章

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2005年學術文章

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name

Guanidinoacetate methyltransfe ...... child with mental retardation.

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Guanidinoacetate methyltransfe ...... child with mental retardation.

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type

label

Guanidinoacetate methyltransfe ...... child with mental retardation.

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Guanidinoacetate methyltransfe ...... child with mental retardation.

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prefLabel

Guanidinoacetate methyltransfe ...... child with mental retardation.

@en

Guanidinoacetate methyltransfe ...... child with mental retardation.

@nl

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P1433

American Journal of Medical Genetics

P1476

Guanidinoacetate methyltransfe ...... child with mental retardation.

@en

P2093

Caldeira Araújo H

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Duran M

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Jakobs C

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Salomons GS

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Silva S

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Smit W

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Vasconcelos R

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Verhoeven NM

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P2860

X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans

Health implications of creatine: can oral creatine supplementation protect against neurological and atherosclerotic disease?

Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry.

Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation.

Lack of creatine in muscle and brain in an adult with GAMT deficiency.

Guanidinoacetate methyltransferase deficiency: new clinical features.

Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis.

Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism.

P304

122-127

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scholarly article

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10.1002/AJMG.A.30226

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2

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P478

133A

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Isabel Tavares de Almeida

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2005-03-01T00:00:00Z

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P5875

8080394

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15651030

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P921

guanidinoacetate methyltransferase deficiency