(Q43613754)

25 November 2017

title

Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency (English)

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25 November 2017

Krista S Viau

1

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25 November 2017

Sharon L Ernst

2

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25 November 2017

Marzia Pasquali

3

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25 November 2017

Lorenzo D Botto

4

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25 November 2017

Gary Hedlund

5

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25 November 2017

Nicola Longo

6

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25 November 2017

publication date

8 September 2013

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Molecular Genetics and Metabolism

25 November 2017

published in

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25 November 2017

volume

110

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25 November 2017

issue

3

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25 November 2017

page(s)

255-262

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GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.

25 November 2017

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1 reference

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

7 January 2021

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

7 January 2021

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Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy

7 January 2021

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

7 January 2021

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Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language.

7 January 2021

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Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism

7 January 2021

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.020

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.020

Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency

7 January 2021

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

7 January 2021

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Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

7 January 2021

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Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.

7 January 2021

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Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease

7 January 2021

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A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal

7 January 2021

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Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology.

7 January 2021

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.020

Creatine supplementation prevents the accumulation of fat in the livers of rats fed a high-fat diet

7 January 2021

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Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency.

7 January 2021

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Therapeutic trial of arginine restriction in creatine deficiency syndrome

7 January 2021

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Current protein intake in America: analysis of the National Health and Nutrition Examination Survey, 2003-2004.

7 January 2021

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Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.020

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.020

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.020

10.1016/J.YMGME.2013.08.020

7 January 2021

Identifiers

DOI

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25 November 2017

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