(Q50687234)

17 March 2018

title

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

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17 March 2018

author name string

Efraim H Rosenberg

1

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17 March 2018

Cristina Martínez Muñoz

2

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17 March 2018

Ofir T Betsalel

3

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17 March 2018

Silvy J M van Dooren

4

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17 March 2018

Matilde Fernandez

5

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17 March 2018

Cornelis Jakobs

6

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17 March 2018

Ton J deGrauw

7

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17 March 2018

Tjitske Kleefstra

8

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17 March 2018

Charles E Schwartz

9

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17 March 2018

Gajja S Salomons

10

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17 March 2018

publication date

1 September 2007

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17 March 2018

published in

Human Mutation

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17 March 2018

volume

28

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17 March 2018

page(s)

890-896

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17 March 2018

issue

9

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17 March 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20532

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20532

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20532

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20532

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20532

7 January 2021

Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20532

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20532

7 January 2021

Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20532

7 January 2021

Incidence of brain creatine transporter deficiency in males with developmental delay referred for brain magnetic resonance imaging.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20532

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20532

7 January 2021

High prevalence of SLC6A8 deficiency in X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20532

7 January 2021

Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20532

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20532

7 January 2021

X-linked creatine transporter defect: an overview

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20532

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20532

7 January 2021

X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20532

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20532

7 January 2021

Creatine and creatinine metabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20532

7 January 2021

Low frequency of MECP2 mutations in mentally retarded males.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20532

7 January 2021

Identifiers

DOI

10.1002/HUMU.20532

1 reference

17 March 2018

PubMed ID

17465020

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17 March 2018