(Q46809013)

25 December 2017

title

A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme (English)

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25 December 2017

author

Vincenzo Leuzzi

1

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author name string

Carla Carducci

2

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Claudia Carducci

3

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Maria Matricardi

4

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Maria Cristina Bianchi

5

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25 December 2017

Maria Lucia Di Sabato

6

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Cristiana Artiola

7

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Italo Antonozzi

8

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publication date

15 November 2005

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25 December 2017

Molecular Genetics and Metabolism

published in

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volume

87

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issue

1

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page(s)

88-90

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

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.017

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.017

Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.017

Two New Severe Mutations Causing Guanidinoacetate Methyltransferase Deficiency

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.017

Activation of GABA(A) receptors by guanidinoacetate: a novel pathophysiological mechanism.

7 January 2021

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Evaluation of the mechanism underlying the inhibitory effect of guanidinoacetate on brain Na+, K+-ATPase activity.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.017

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.017

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.2005.09.017

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.017

Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.017

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.017

Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.017

Characterization of seven novel mutations in seven patients with GAMT deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.017

Creatine synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.017

10.1016/J.YMGME.2005.09.017

7 January 2021

Identifiers

DOI

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25 December 2017

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25 December 2017