(Q46527196)

22 December 2017

title

Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect (English)

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22 December 2017

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2

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22 December 2017

Giovanni Cioni

11

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22 December 2017

Elena Moretti

object named as

Elena Moretti

8

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Anna Maria Chilosi

object named as

Anna Chilosi

1

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Roberta Battini

object named as

Roberta Battini

3

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author name string

Michela Tosetti

4

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22 December 2017

Giovanni Ferretti

5

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22 December 2017

Alessandro Comparini

6

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22 December 2017

Manuela Casarano

7

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22 December 2017

M Grazia Alessandri

9

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22 December 2017

M Cristina Bianchi

10

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22 December 2017

publication date

1 January 2008

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22 December 2017

published in

Neurocase

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22 December 2017

volume

14

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22 December 2017

issue

2

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22 December 2017

page(s)

151-161

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22 December 2017

X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype

cites work

1 reference

https://api.crossref.org/works/10.1080%2F13554790802060821

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

21 January 2018

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

21 January 2018

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Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation.

21 January 2018

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Glycine transporters: essential regulators of synaptic transmission

21 January 2018

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https://api.crossref.org/works/10.1080%2F13554790802060821

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13554790802060821

The clinical pharmacology of L-arginine

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13554790802060821

L-arginine uptake, the citrulline-NO cycle and arginase II in the rat brain: an in situ hybridization study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13554790802060821

Endogenous synthesis and transport of creatine in the rat brain: an in situ hybridization study

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13554790802060821

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

21 January 2018

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https://api.crossref.org/works/10.1080%2F13554790802060821

The synthesis of creatine by the brain of the intact rat.

21 January 2018

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Congenital creatine transporter deficiency

21 January 2018

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21 January 2018

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Creatine synthesis: production of guanidinoacetate by the rat and human kidney in vivo

21 January 2018

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https://api.crossref.org/works/10.1080%2F13554790802060821

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

21 January 2018

1 reference

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Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.

21 January 2018

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

21 January 2018

1 reference

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Incidence of brain creatine transporter deficiency in males with developmental delay referred for brain magnetic resonance imaging

21 January 2018

1 reference

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Cationic amino acid transport across the blood-brain barrier is mediated exclusively by system y+.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13554790802060821

High prevalence of SLC6A8 deficiency in X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13554790802060821

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13554790802060821

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13554790802060821

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13554790802060821

Identification of the cationic amino acid transporter (System y+) of the rat blood-brain barrier.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13554790802060821

Pharmacokinetics of intravenous and oral L-arginine in normal volunteers

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13554790802060821

Arginine metabolism: nitric oxide and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13554790802060821

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13554790802060821

10.1080/13554790802060821

21 January 2018

Identifiers

DOI

1 reference

22 December 2017

PubMed ID

18569740

1 reference

22 December 2017