(Q28611534)

3 February 2017

1 reference

Europe PubMed Central

title

X-linked creatine transporter defect: an overview (English)

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creatine transporter deficiency

3 February 2017

main subject

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G. S. Salomons

1

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3 February 2017

S. J. M. van Dooren

2

1 reference

3 February 2017

N. M. Verhoeven

3

1 reference

3 February 2017

D. Marsden

4

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3 February 2017

C. Schwartz

5

1 reference

3 February 2017

K. M. Cecil

6

1 reference

3 February 2017

T. J. DeGrauw

7

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3 February 2017

C. Jakobs

8

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3 February 2017

publication date

1 January 2003

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Journal of Inherited Metabolic Disease

3 February 2017

published in

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3 February 2017

volume

26

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3 February 2017

issue

2-3

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3 February 2017

page(s)

309–318

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

3 February 2017

cites work

1 reference

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

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12 December 2020

Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD.

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Creatine: Biosynthesis, Regulation, and Function

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Assignment of the human creatine transporter type 2 (SLC6A10) to chromosome band 16p11.2 by in situ hybridization

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12 December 2020

Large-scale methylation analysis of human genomic DNA reveals tissue-specific differences between the methylation profiles of genes and pseudogenes.

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12 December 2020

Potential for creatine and other therapies targeting cellular energy dysfunction in neurological disorders

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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

The cloning and expression of a human creatine transporter

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12 December 2020

Congenital creatine transporter deficiency

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12 December 2020

Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution

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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

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

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12 December 2020

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

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12 December 2020

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

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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

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

Creatine and creatinine metabolism

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12 December 2020

Cloning, pharmacological characterization, and genomic localization of the human creatine transporter

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12 December 2020

The genomic organization of a human creatine transporter (CRTR) gene located in Xq28

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12 December 2020

Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect.

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12 December 2020

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

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12 December 2020

The clinical syndrome of creatine transporter deficiency

1 reference

12 December 2020