(Q28216730)

8

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Roberta Battini

object named as

Roberta Battini

1

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author name string

Carla Carducci

3

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Michela Tosetti

4

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Maria C Bianchi

5

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Chike B Item

6

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Sylvia Stöckler-Ipsiroglu

Molecular Genetics and Metabolism

7

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language of work or name

English

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publication date

December 2002

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published in

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volume

77

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issue

4

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page(s)

326-31

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cites work

Creatine and creatinine metabolism

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900175-0

7 January 2021

Guanidinoacetate methyltransferase deficiency: new clinical features

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900175-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900175-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900175-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900175-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900175-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900175-0

7 January 2021

Two New Severe Mutations Causing Guanidinoacetate Methyltransferase Deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900175-0

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%2FS1096-7192%2802%2900175-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900175-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900175-0

7 January 2021