(Q48503978)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763899%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763899%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference

1

1 reference

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29 January 2020

author name string

Cristina Martínez Muñoz

2

1 reference

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29 January 2020

Ton J Degrauw

3

1 reference

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29 January 2020

Cor nelis Jakobs

4

1 reference

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29 January 2020

Gajja S Salomons

5

1 reference

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29 January 2020

publication date

1 April 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763899%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

29 January 2020

published in

1 reference

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29 January 2020

volume

29

1 reference

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29 January 2020

issue

2-3

1 reference

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29 January 2020

page(s)

345-346

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https://scigraph.springernature.com/pub.10.1007/s10545-006-0271-6

29 January 2020

exact match

0 references

cites work

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

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-006-0271-6

High prevalence of SLC6A8 deficiency in X-linked mental retardation

21 January 2018

1 reference

12 December 2020

Congenital creatine transporter deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

10.1007/S10545-006-0271-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763899%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference