Arginine supplementation in four patients with X-linked creatine transporter defect. (Q46313853)

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English	Arginine supplementation in four patients with X-linked creatine transporter defect.	scientific article

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Europe PubMed Central

PubMed publication ID

18925426

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

retrieved

24 December 2019

title

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

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stated in

Europe PubMed Central

PubMed publication ID

18925426

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

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24 December 2019

author

Angela Arias

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3

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Europe PubMed Central

PubMed publication ID

18925426

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

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24 December 2019

author name string

C Fons

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1

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Europe PubMed Central

PubMed publication ID

18925426

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

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24 December 2019

A Sempere

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2

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PubMed publication ID

18925426

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

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24 December 2019

A López-Sala

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4

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PubMed publication ID

18925426

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24 December 2019

P Póo

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5

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Europe PubMed Central

PubMed publication ID

18925426

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

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24 December 2019

M Pineda

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6

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Europe PubMed Central

PubMed publication ID

18925426

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

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24 December 2019

A Mas

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7

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Europe PubMed Central

PubMed publication ID

18925426

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

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24 December 2019

M A Vilaseca

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8

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PubMed publication ID

18925426

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

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24 December 2019

G S Salomons

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9

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Europe PubMed Central

PubMed publication ID

18925426

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

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24 December 2019

A Ribes

series ordinal

10

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Europe PubMed Central

PubMed publication ID

18925426

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

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24 December 2019

R Artuch

series ordinal

11

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Europe PubMed Central

PubMed publication ID

18925426

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

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24 December 2019

J Campistol

series ordinal

12

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Europe PubMed Central

PubMed publication ID

18925426

reference URL

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

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24 December 2019

publication date

16 October 2008

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Europe PubMed Central

PubMed publication ID

18925426

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

retrieved

24 December 2019

published in

Journal of Inherited Metabolic Disease

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Europe PubMed Central

PubMed publication ID

18925426

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

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24 December 2019

volume

31

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Europe PubMed Central

PubMed publication ID

18925426

reference URL

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

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24 December 2019

issue

6

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Europe PubMed Central

PubMed publication ID

18925426

reference URL

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

retrieved

24 December 2019

page(s)

724-728

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Europe PubMed Central

PubMed publication ID

18925426

reference URL

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

retrieved

24 December 2019

cites work

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

1 reference

stated in

Crossref

reference URL

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

retrieved

21 January 2018

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18925426

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18925426

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18925426

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18925426

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18925426

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18925426

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Creatine deficiency syndromes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18925426

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18925426

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18925426

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Creatine and creatinine metabolism

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18925426

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18925426

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18925426

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18925426

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18925426

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18925426

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked creatine transporter defect: an overview

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18925426

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exocytotic release of creatine in rat brain

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18925426

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18925426

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18925426

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The clinical syndrome of creatine transporter deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18925426

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S10545-008-0902-1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

18925426

reference URL

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

retrieved

24 December 2019

PubMed publication ID

18925426

1 reference

stated in

Europe PubMed Central

PubMed publication ID

18925426

reference URL

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

retrieved

24 December 2019

ResearchGate publication ID

23388143

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