X-linked creatine transporter defect: an overview (Q28611534)

3 February 2017

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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

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3 February 2017

N. M. Verhoeven

3

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3 February 2017

D. Marsden

4

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3 February 2017

C. Schwartz

5

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3 February 2017

K. M. Cecil

6

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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

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12 December 2020

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

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Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism

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

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The clinical syndrome of creatine transporter deficiency

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