(Q42546271)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9386672%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9386672%20AND%20SRC:MED&resulttype=core&format=json

guanidinoacetate methyltransferase deficiency

7 November 2019

main subject

0 references

author

Ron A. Wevers

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9386672%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

author name string

A Schulze

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9386672%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

T Hess

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9386672%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

E Mayatepek

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9386672%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

P Bachert

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9386672%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

B Marescau

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9386672%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

M V Knopp

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9386672%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

P P De Deyn

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9386672%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

H J Bremer

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9386672%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

D Rating

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9386672%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

language of work or name

English

0 references

publication date

1 October 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9386672%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

7 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9386672%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

volume

131

1 reference

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7 November 2019

issue

4

1 reference

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7 November 2019

page(s)

626-631

1 reference

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

7 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970075-1

Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970075-1

Localization of L-arginine-glycine amidinotransferase protein in rat tissues by immunofluorescence microscopy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970075-1

The cloning and expression of a human creatine transporter

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970075-1

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970075-1

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970075-1

‘Multiple Dipping’ Procedures in Paper Chromatography: a Specific Test for Hydroxy-proline

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970075-1

Guanidino compounds in serum, urine, liver, kidney, and brain of man and some ureotelic animals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970075-1

Localized high-resolution proton NMR spectroscopy using stimulated echoes: initial applications to human brain in vivo.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970075-1

A radioactive assay for guanidoacetate methyltransferase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970075-1

In vivo 1H, 31P-[1H] and 13C-[1H] magnetic resonance spectroscopy of malignant histiocytoma and skeletal muscle tissue in man

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970075-1

10.1016/S0022-3476(97)70075-1

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9386672%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference