(Q48630606)

English

Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.

scientific article published on 27 January 2012

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scholarly article

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Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/22386973

Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency. (English)

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/22386973

1 reference

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inferred from title

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ChEBI release 2020-05-28

author name string

Joseph D T Ndika

1

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/22386973

Kathreen Johnston

2

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/22386973

James A Barkovich

3

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/22386973

Michael D Wirt

4

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/22386973

Patricia O'Neill

5

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/22386973

Ofir T Betsalel

6

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/22386973

Cornelis Jakobs

7

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/22386973

Gajja S Salomons

8

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/22386973

publication date

27 January 2012

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/22386973

Molecular Genetics and Metabolism

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Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/22386973

106

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/22386973

1

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/22386973

48-54

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/22386973

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.017

7 January 2021

Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.017

7 January 2021

Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.017

7 January 2021

l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.017

7 January 2021

Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.017

7 January 2021

Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.017

7 January 2021

Creatine and creatine deficiency syndromes: biochemical and clinical aspects

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.017

7 January 2021

Influence of oral creatine supplementation of muscle torque during repeated bouts of maximal voluntary exercise in man.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.017

7 January 2021

Creatine deficiency syndromes

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.017

7 January 2021

Identifiers

10.1016/J.YMGME.2012.01.017

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/22386973

release_mql3gsccvzarzgouhxi3cnveim

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https://api.fatcat.wiki/v0/release/mql3gsccvzarzgouhxi3cnveim

24 November 2022

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/22386973

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