(Q34147667)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210795%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210795%20AND%20SRC:MED&resulttype=core&format=json

creatine transporter deficiency

12 November 2019

main subject

1 reference

1

1 reference

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12 November 2019

9

Graziella Uziel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210795%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

5

Isabella Moroni

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210795%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Isabella Moroni

1 reference

ORCID Public Data File 2021

author name string

Marianna Bugiani

2

1 reference

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12 November 2019

Gajja S Salomons

3

1 reference

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12 November 2019

Donald H Hunneman

4

1 reference

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12 November 2019

Margherita Estienne

6

1 reference

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12 November 2019

Ugo Danesi

7

1 reference

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12 November 2019

Cornelis Jakobs

8

1 reference

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12 November 2019

publication date

1 August 2002

1 reference

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12 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210795%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

volume

52

1 reference

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12 November 2019

issue

2

1 reference

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12 November 2019

page(s)

227-231

1 reference

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

12 November 2019

cites work

1 reference

Guanidinoacetate methyltransferase deficiency: new clinical features

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Quantitative proton MR spectroscopic imaging of the human brain.

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.10246

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210795%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference