(Q35644108)

9 August 2017

title

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect (English)

1 reference

creatine transporter deficiency

9 August 2017

1 reference

ChEBI release 2020-05-28

ChEBI ID

16919

1 reference

2

Petra J W Pouwels

1 reference

9 August 2017

author name string

Jiddeke M van de Kamp

1

1 reference

9 August 2017

Femke K Aarsen

3

1 reference

9 August 2017

Leontine W ten Hoopen

4

1 reference

9 August 2017

Dirk L Knol

5

1 reference

9 August 2017

Johannes B de Klerk

6

1 reference

9 August 2017

Ireneus F de Coo

7

1 reference

9 August 2017

Jan G M Huijmans

8

1 reference

9 August 2017

Cornelis Jakobs

9

1 reference

9 August 2017

Marjo S van der Knaap

10

1 reference

9 August 2017

Gajja S Salomons

11

1 reference

9 August 2017

Grazia M S Mancini

12

1 reference

9 August 2017

publication date

10 May 2011

1 reference

Journal of Inherited Metabolic Disease

9 August 2017

published in

1 reference

9 August 2017

volume

35

1 reference

9 August 2017

issue

1

1 reference

9 August 2017

page(s)

141-149

1 reference

https://scigraph.springernature.com/pub.10.1007/s10545-011-9345-1

9 August 2017

exact match

0 references

cites work

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Expression and possible role of creatine transporter in the brain and at the blood-cerebrospinal fluid barrier as a transporting protein of guanidinoacetate, an endogenous convulsant

12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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

12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes

21 January 2018

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21 January 2018

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

21 January 2018

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Treatment of intractable epilepsy in a female with SLC6A8 deficiency

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-011-9345-1

S-adenosyl-L-methionine restores photoreceptor function following acute retinal ischemia.

21 January 2018

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21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9345-1

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

21 January 2018

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1H MR spectroscopy of the brain in Cr transporter defect

21 January 2018

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21 January 2018

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Estimation of metabolite concentrations from localized in vivo proton NMR spectra

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21556832

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Studies of age-correlated features of cognitive-behavioral development in children and adolescents with genetic disorders

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21556832

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-011-9345-1

1 reference

9 August 2017

1 reference

9 August 2017

1 reference