Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect (Q35644108)

9 August 2017

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

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

10 May 2011

1 reference

Journal of Inherited Metabolic Disease

9 August 2017

1 reference

9 August 2017

35

1 reference

9 August 2017

1

1 reference

9 August 2017

141-149

1 reference

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

9 August 2017

0 references

cites work

Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249187

Immunohistochemical localisation of the creatine transporter in the rat brain.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249187

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249187

Expression and function of AGAT, GAMT and CT1 in the mammalian brain

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249187

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249187

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249187

X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype

12 July 2018

1 reference

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

12 July 2018

1 reference

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Health implications of creatine: can oral creatine supplementation protect against neurological and atherosclerotic disease?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249187

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249187

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249187

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249187

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249187

Creatine and creatinine metabolism

12 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249187

12 July 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249187

Regional age dependence of human brain metabolites from infancy to adulthood as detected by quantitative localized proton MRS.

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249187

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

12 July 2018

1 reference

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

Exocytotic release of creatine in rat brain.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Congenital creatine transporter deficiency

21 January 2018

1 reference

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

1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency

21 January 2018

1 reference

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

Creatine synthesis: production of guanidinoacetate by the rat and human kidney in vivo

21 January 2018

1 reference

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

21 January 2018

1 reference

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

The creatine transporter mediates the uptake of creatine by brain tissue, but not the uptake of two creatine-derived compounds.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Treatment of intractable epilepsy in a female with SLC6A8 deficiency

21 January 2018

1 reference

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

1 reference

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

Na(+)/Cl(-)/creatine transporter activity and expression in rat brain synaptosomes

21 January 2018

1 reference

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

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

1 reference

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

1H MR spectroscopy of the brain in Cr transporter defect

21 January 2018

1 reference

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

Metabolism of glycine in primary astroglial cells: synthesis of creatine, serine, and glutathione.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249187

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