(Q43458982)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21144783%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21144783%20AND%20SRC:MED&resulttype=core&format=json

disability affecting intellectual abilities

17 January 2020

main subject

disability

0 references

intellectual disability

1 reference

1 reference

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21144783%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Giovanni Cioni

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21144783%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Roberta Battini

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21144783%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Anna Maria Chilosi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21144783%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Francesca Moro

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21144783%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Maria Grazia Alessandrì

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21144783%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

author name string

M Casarano

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21144783%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

A Comparini

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21144783%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

M Tosetti

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21144783%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

publication date

13 November 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21144783%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

17 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21144783%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

102

1 reference

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17 January 2020

issue

2

1 reference

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17 January 2020

page(s)

153-156

1 reference

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

17 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.005

Severe epilepsy in X-linked creatine transporter defect (CRTR-D).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.005

Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.005

High prevalence of SLC6A8 deficiency in X-linked mental retardation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.005

X-linked creatine transporter defect: an overview

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.005

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.005

Estimation of metabolite concentrations from localized in vivo proton NMR spectra

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.005

Gas chromatography/mass spectrometry assay for arginine: glycine-amidinotransferase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.005

Linguistic profile of individuals with Down syndrome: comparing the linguistic performance of three developmental disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.005

Receptive language skills of adolescents and young adults with down or fragile X syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.005

A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.005

Immunohistochemical localisation of the creatine transporter in the rat brain.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.005

Synthesis and transport of creatine in the CNS: importance for cerebral functions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.11.005

10.1016/J.YMGME.2010.11.005

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21144783%20AND%20SRC:MED&resulttype=core&format=json

release_wu4aa77h4fdxjhipkjqiordyc4

17 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wu4aa77h4fdxjhipkjqiordyc4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference