(Q54349424)

28 May 2018

title

Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability. (English)

1 reference

28 May 2018

creatine transporter deficiency

main subject

1 reference

7

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28 May 2018

Joussef Hayek

object named as

Joussef Hayek

13

0 references

Alessandra Renieri

object named as

Alessandra Renieri

14

0 references

Francesca Mari

object named as

Francesca Mari

10

0 references

author name string

Maria Antonietta Mencarelli

1

1 reference

28 May 2018

Maria Tassini

2

1 reference

28 May 2018

Marzia Pollazzon

3

1 reference

28 May 2018

Antonio Vivi

4

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28 May 2018

Marco Calderisi

5

1 reference

28 May 2018

Michele Falco

6

1 reference

28 May 2018

Lucia Monti

8

1 reference

28 May 2018

Sabrina Buoni

9

1 reference

28 May 2018

Udo Engelke

11

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28 May 2018

Ron A Wevers

12

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28 May 2018

language of work or name

English

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publication date

9 September 2011

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28 May 2018

American Journal of Medical Genetics

published in

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28 May 2018

volume

155A

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28 May 2018

issue

10

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28 May 2018

page(s)

2446-2452

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28 May 2018

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306553

High prevalence of SLC6A8 deficiency in X-linked mental retardation

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306553

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306553

Possibilities of selective screening for inborn errors of metabolism using high-resolution 1H-FT-NMR spectrometry

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306553

The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306553

[(1)H] magnetic resonance spectroscopy of urine: diagnosis of a guanidinoacetate methyl transferase deficiency case.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306553

Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306553

Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306553

Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306553

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306553

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306553

13 August 2018

Identifiers

DOI

10.1002/AJMG.A.34208

1 reference

28 May 2018

PMC publication ID

3306553

1 reference

28 May 2018

PubMed publication ID

21910234

1 reference

28 May 2018