(Q44963967)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15234335%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects (English)

1 reference

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30 December 2019

1

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30 December 2019

3

Antonia Ribes

1 reference

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30 December 2019

Judit García-Villoria

series ordinal

2

object named as

Judit Garcia-Villoria

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30 December 2019

publication date

1 July 2004

1 reference

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Molecular Genetics and Metabolism

30 December 2019

published in

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30 December 2019

volume

82

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30 December 2019

issue

3

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30 December 2019

page(s)

220-223

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

30 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.009

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.2004.04.009

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.2004.04.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.009

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.009

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.2004.04.009

GC-MS determination of guanidinoacetate in urine and plasma

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.009

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.2004.04.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.009

Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.009

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.009

Ammonium-induced impairment of axonal growth is prevented through glial creatine.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.009

A new family affected by the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.009

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.009

10.1016/J.YMGME.2004.04.009

7 January 2021

Identifiers

DOI

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30 December 2019

1 reference