X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. (Q24533546)

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6 November 2019

case report

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title

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

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6 November 2019

4

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6 November 2019

author name string

Salomons GS

1

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6 November 2019

van Dooren SJ

2

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6 November 2019

Verhoeven NM

3

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6 November 2019

Ball WS

5

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6 November 2019

Degrauw TJ

6

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6 November 2019

Jakobs C

7

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6 November 2019

language of work or name

English

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publication date

20 April 2001

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American Journal of Human Genetics

6 November 2019

published in

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6 November 2019

volume

68

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issue

6

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page(s)

1497-1500

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The genomic organization of a human creatine transporter (CRTR) gene located in Xq28

6 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226136

Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226136

Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226136

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226136

Creatine and creatinine metabolism

24 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226136

24 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226136

The cloning and expression of a human creatine transporter

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226136

Creatine: Biosynthesis, Regulation, and Function

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226136

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226136

Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226136

Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226136

Assignment of the human creatine transporter type 2 (SLC6A10) to chromosome band 16p11.2 by in situ hybridization

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226136

Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226136

Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226136

Reversible brain creatine deficiency in two sisters with normal blood creatine level

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11326334

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11326334

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/320595

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11326334 AND SRC:MED&resulttype=core&format=json

release_crxos34phrbw7nxpxb3ple22gu

6 November 2019

Fatcat ID

0 references

OpenCitations bibliographic resource ID

353742

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11326334 AND SRC:MED&resulttype=core&format=json

6 November 2019

PubMed publication ID

11326334

1 reference