(Q46313853)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925426%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

title

Arginine supplementation in four patients with X-linked creatine transporter defect (English)

1 reference

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24 December 2019

3

1 reference

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24 December 2019

author name string

C Fons

1

1 reference

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24 December 2019

A Sempere

2

1 reference

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24 December 2019

A López-Sala

4

1 reference

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24 December 2019

P Póo

5

1 reference

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24 December 2019

M Pineda

6

1 reference

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24 December 2019

A Mas

7

1 reference

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24 December 2019

M A Vilaseca

8

1 reference

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24 December 2019

G S Salomons

9

1 reference

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24 December 2019

A Ribes

10

1 reference

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24 December 2019

R Artuch

11

1 reference

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24 December 2019

J Campistol

12

1 reference

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24 December 2019

publication date

16 October 2008

1 reference

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Journal of Inherited Metabolic Disease

24 December 2019

published in

1 reference

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24 December 2019

volume

31

1 reference

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24 December 2019

issue

6

1 reference

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24 December 2019

page(s)

724-728

1 reference

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

24 December 2019

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-008-0902-1

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

21 January 2018

1 reference

12 December 2020

[Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease]

1 reference

12 December 2020

Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD.

1 reference

12 December 2020

X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism

1 reference

12 December 2020

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Creatine deficiency syndromes

1 reference

12 December 2020

Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblasts.

1 reference

12 December 2020

Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism

1 reference

12 December 2020

Creatine and creatinine metabolism

1 reference

12 December 2020

Methods for the diagnosis of creatine deficiency syndromes: A comparative study

1 reference

12 December 2020

Cloning, pharmacological characterization, and genomic localization of the human creatine transporter

1 reference

12 December 2020

Creatine Metabolism in Men: Urinary Creatine and Creatinine Excretions with Creatine Feeding

1 reference

12 December 2020

Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.

1 reference

12 December 2020

Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation

1 reference

12 December 2020

X-linked creatine transporter defect: an overview

1 reference

12 December 2020

Exocytotic release of creatine in rat brain

1 reference

12 December 2020

AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review

1 reference

12 December 2020

Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.

1 reference

12 December 2020

The clinical syndrome of creatine transporter deficiency

1 reference

12 December 2020