(Q44963964)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15234334%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport (English)

1 reference

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30 December 2019

1

1 reference

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30 December 2019

Carla Valongo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15234334%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Maria Luís Cardoso

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15234334%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

author name string

Nanda M Verhoeven

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15234334%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Birthe Roos

3

1 reference

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30 December 2019

Laura Vilarinho

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15234334%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Gajja S Salomons

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15234334%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Cornelis Jakobs

8

1 reference

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30 December 2019

publication date

1 July 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15234334%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

30 December 2019

published in

1 reference

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30 December 2019

volume

82

1 reference

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30 December 2019

issue

3

1 reference

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30 December 2019

page(s)

214-219

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15234334%20AND%20SRC:MED&resulttype=core&format=json

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

30 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.001

Reversible brain creatine deficiency in two sisters with normal blood creatine level

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.001

X-linked creatine transporter defect: an overview

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.001

Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.001

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%2FJ.YMGME.2004.05.001

GC-MS determination of guanidinoacetate in urine and plasma

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.001

Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.001