(Q35188364)

7 August 2017

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title

Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism (English)

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7 August 2017

Stromberger C

1

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7 August 2017

Bodamer OA

series ordinal

2

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7 August 2017

Stöckler-Ipsiroglu S

series ordinal

3

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7 August 2017

publication date

1 January 2003

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Journal of Inherited Metabolic Disease

7 August 2017

published in

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7 August 2017

volume

26

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7 August 2017

issue

2-3

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7 August 2017

page(s)

299-308

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X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

7 August 2017

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency

1 reference

12 December 2020

Extracellular creatine regulates creatine transport in rat and human muscle cells

1 reference

12 December 2020

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

1 reference

12 December 2020

Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Therapeutic trial of arginine restriction in creatine deficiency syndrome

1 reference

12 December 2020

A Na(+)-dependent creatine transporter in rabbit brain, muscle, heart, and kidney. cDNA cloning and functional expression

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Guanidinoacetate methyltransferase deficiency: new clinical features

1 reference

12 December 2020

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

1 reference

12 December 2020

Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect.

1 reference

12 December 2020

Changes of tissue creatine concentrations upon oral supplementation of creatine-monohydrate in various animal species

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Two New Severe Mutations Causing Guanidinoacetate Methyltransferase Deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1023/A:1024453704800

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Dimensions Publication ID

7 August 2017

1030071160

0 references

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