(Q51933512)

English

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

scientific article published in January 2005

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/15690373

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

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/15690373

creatine transporter deficiency

1 reference

based on heuristic

inferred from title

author name string

Mancini GM

1

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/15690373

Catsman-Berrevoets CE

2

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/15690373

de Coo IF

3

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/15690373

Aarsen FK

4

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/15690373

Kamphoven JH

5

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/15690373

Huijmans JG

6

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/15690373

Duran M

7

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/15690373

van der Knaap MS

8

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/15690373

Jakobs C

9

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/15690373

Salomons GS

10

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/15690373

language of work or name

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publication date

1 January 2005

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/15690373

American Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/15690373

132A

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/15690373

3

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/15690373

288-295

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/15690373

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30473

21 January 2018

Unusual clinical and magnetic resonance imaging findings in a family with proteolipid protein gene mutation

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30473

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30473

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30473

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30473

21 January 2018

Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30473

21 January 2018

Congenital creatine transporter deficiency

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30473

21 January 2018

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30473

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30473

21 January 2018

Metabolic disorders and mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30473

21 January 2018

The Blood–Brain Barrier Creatine Transporter is a Major Pathway for Supplying Creatine to the Brain

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30473

21 January 2018

High prevalence of SLC6A8 deficiency in X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30473

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30473

21 January 2018

X-linked creatine transporter defect: an overview

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30473

21 January 2018

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30473

21 January 2018

Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30473

21 January 2018

Leukoencephalopathy associated with a disturbance in the metabolism of polyols

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30473

21 January 2018

Identifiers

10.1002/AJMG.A.30473

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/15690373

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/15690373

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