(Q24536125)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11555793%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

case report

0 references

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11555793%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

author

Maria Grazia Alessandrì

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11555793%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Francesco Fornai

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11555793%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Giovanni Cioni

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11555793%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

author name string

Item CB

1

1 reference

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11 November 2019

Stöckler-Ipsiroglu S

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11555793%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Stromberger C

3

1 reference

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11 November 2019

Mühl A

4

1 reference

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11 November 2019

Bianchi MC

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11555793%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Tosetti M

7

1 reference

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11 November 2019

language of work or name

English

0 references

publication date

10 September 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11555793%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

11 November 2019

published in

1 reference

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11 November 2019

volume

69

1 reference

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11 November 2019

page(s)

1127-1133

1 reference

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11 November 2019

issue

5

1 reference

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

11 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=1274356

Recombinant expression and isolation of human L-arginine:glycine amidinotransferase and identification of its active-site cysteine residue

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274356

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=1274356

The cloning and expression of a 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=1274356

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=1274356

Distribution of creatine, guanidinoacetate and the enzymes for their biosynthesis in the animal kingdom. Implications for phylogeny

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274356

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=1274356

Methods in clinical molecular genetics

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274356

A simple method for identification of point mutations using denaturing gradient gel electrophoresis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274356

A Na(+)-dependent creatine transporter in rabbit brain, muscle, heart, and kidney. cDNA cloning and functional expression

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274356

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=1274356

Creatine deficiency syndromes: a new perspective on metabolic disorders and a diagnostic challenge.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274356

Guanidinoacetate methyltransferase deficiency: new clinical features.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274356

Creatine deficiency in the brain: a new, treatable inborn error of metabolism

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274356

Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274356

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274356

Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274356

Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274356

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=1274356

Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis

29 November 2018

1 reference

12 December 2020

GC-MS determination of guanidinoacetate in urine and plasma

1 reference

12 December 2020

Proof of "disease causing" mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism

1 reference

12 December 2020

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

1 reference

12 December 2020

Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)

1 reference

12 December 2020

Identifiers

DOI

10.1086/323765

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11555793%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11555793%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference