(Q31151655)

29 June 2017

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title

AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review (English)

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29 June 2017

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O Braissant

1

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29 June 2017

H Henry

series ordinal

2

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29 June 2017

publication date

4 April 2008

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Journal of Inherited Metabolic Disease

29 June 2017

published in

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29 June 2017

volume

31

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29 June 2017

issue

2

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29 June 2017

page(s)

230-239

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https://scigraph.springernature.com/pub.10.1007/s10545-008-0826-9

29 June 2017

exact match

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cites work

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0826-9

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-008-0826-9

Creatine deficiency in the brain: a new, treatable inborn error of metabolism

21 January 2018

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Intracellular compartmentation, structure and function of creatine kinase isoenzymes in tissues with high and fluctuating energy demands: the 'phosphocreatine circuit' for cellular energy homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0826-9

Biochemical and clinical characteristics of creatine deficiency syndromes.

21 January 2018

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12 December 2020

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

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12 December 2020

Endogenous synthesis and transport of creatine in the rat brain: an in situ hybridization study

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12 December 2020

Biochemical and behavioural phenotyping of a mouse model for GAMT deficiency

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12 December 2020

Severe epilepsy in X-linked creatine transporter defect (CRTR-D).

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12 December 2020

Creatine uptake in brain and skeletal muscle of mice lacking guanidinoacetate methyltransferase assessed by magnetic resonance spectroscopy.

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12 December 2020

X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism.

1 reference

12 December 2020

Blood-to-retina transport of creatine via creatine transporter (CRT) at the rat inner blood-retinal barrier

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12 December 2020

An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency

1 reference

12 December 2020

Creatine transporter localization in developing and adult retina: importance of creatine to retinal function

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12 December 2020

Measurement of nitric oxide-related enzymes in the brain by in situ hybridization

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12 December 2020

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.

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12 December 2020

Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?

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12 December 2020

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

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12 December 2020

Distribution of creatine, guanidinoacetate and the enzymes for their biosynthesis in the animal kingdom. Implications for phylogeny

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12 December 2020

Activation of GABA(A) receptors by guanidinoacetate: a novel pathophysiological mechanism.

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12 December 2020

Congenital creatine transporter deficiency

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12 December 2020

Possible role of creatine concentrations in the brain in regulating appetite and weight

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12 December 2020

Creatine synthesis and transport systems in the male rat reproductive tract

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12 December 2020

Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.

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12 December 2020

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

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12 December 2020

1H MR spectroscopy of the brain in Cr transporter defect

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12 December 2020

Creatine deficiency syndromes

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12 December 2020

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

1 reference

12 December 2020

Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency

1 reference

12 December 2020

Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man

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12 December 2020

An immunohistochemical and morphometric study on astrocytes and microvasculature in the human cerebral cortex.

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12 December 2020

Creatine transport in cultured cells of rat and mouse brain.

1 reference

12 December 2020

MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)‐deficient mice: Validation of an animal model to study creatine deficiency

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12 December 2020

A novel relationship between creatine transport at the blood-brain and blood-retinal barriers, creatine biosynthesis, and its use for brain and retinal energy homeostasis.

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12 December 2020

Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism

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12 December 2020

Neuron-specific expression of cationic amino acid transporter 3 in the adult rat brain

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12 December 2020

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

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12 December 2020

The Blood–Brain Barrier Creatine Transporter is a Major Pathway for Supplying Creatine to the Brain

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12 December 2020

Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.

1 reference

12 December 2020

Therapeutic trial of arginine restriction in creatine deficiency syndrome

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12 December 2020

A Na(+)-dependent creatine transporter in rabbit brain, muscle, heart, and kidney. cDNA cloning and functional expression

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12 December 2020

Hyperammonemia-induced toxicity for the developing central nervous system

1 reference

12 December 2020

Creatine and creatinine metabolism

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12 December 2020

Kinetics of creatine in blood and brain after intraperitoneal injection in the rat.

1 reference

12 December 2020

Intrastriatal administration of guanidinoacetate inhibits Na+, K+-ATPase and creatine kinase activities in rat striatum.

1 reference

12 December 2020

Ammonium-induced impairment of axonal growth is prevented through glial creatine.

1 reference

12 December 2020

Differential expression of the cationic amino acid transporter 2(B) in the adult rat brain

1 reference

12 December 2020

Metabolism of glycine in primary astroglial cells: synthesis of creatine, serine, and glutathione.

1 reference

12 December 2020

Distinct cellular expressions of creatine synthetic enzyme GAMT and creatine kinases uCK-Mi and CK-B suggest a novel neuron-glial relationship for brain energy homeostasis

1 reference

12 December 2020

New aspects of the blood-brain barrier transporters; its physiological roles in the central nervous system.

1 reference

12 December 2020

Pre-symptomatic treatment of creatine biosynthesis defects

1 reference

12 December 2020

Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)

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12 December 2020

Guanidinoacetate methyltransferase deficiency: new clinical features.

1 reference

12 December 2020

Guanidinoacetate methyltransferase activity in tissues and cultured cells

1 reference

12 December 2020

Increase of total creatine in human brain after oral supplementation of creatine-monohydrate

1 reference

12 December 2020

In situ hybridization analysis of CHOT1, a creatine transporter, in the rat central nervous system.

1 reference

12 December 2020

Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree

1 reference

12 December 2020

Ammonium alters creatine transport and synthesis in a 3D culture of developing brain cells, resulting in secondary cerebral creatine deficiency.

1 reference

12 December 2020

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.

1 reference

12 December 2020

Expression and function of AGAT, GAMT and CT1 in the mammalian brain

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12 December 2020

GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.

1 reference

12 December 2020

L-arginine uptake, the citrulline-NO cycle and arginase II in the rat brain: an in situ hybridization study

1 reference

12 December 2020

Evidence for creatine biosynthesis in Müller glia

1 reference

12 December 2020

X-linked creatine transporter defect: an overview

1 reference

12 December 2020

Exocytotic release of creatine in rat brain.

1 reference

12 December 2020

Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle

1 reference

12 December 2020

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

1 reference

12 December 2020

Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency

1 reference

12 December 2020

X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype

1 reference

12 December 2020

Expression of the rat brain creatine transporter in situ and in transfected HeLa cells

1 reference

12 December 2020

Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.

1 reference

12 December 2020

The putative rat choline transporter CHOT1 transports creatine and is highly expressed in neural and muscle-rich tissues

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12 December 2020

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

1 reference

12 December 2020

Creatine synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1.

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12 December 2020

The blood-brain barrier creatine transporter is a major pathway for supplying creatine to the brain

1 reference

12 December 2020

10.1007/S10545-008-0826-9

Identifiers

DOI

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Dimensions Publication ID

29 June 2017

1004707415

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