The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation (Q50301309)

2 March 2018

title

The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation (English)

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creatine transporter deficiency

main subject

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H Puusepp

1

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K Kall

2

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G S Salomons

3

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I Talvik

4

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M Männamaa

5

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R Rein

6

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C Jakobs

7

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K Õunap

8

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publication date

1 December 2010

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Journal of Inherited Metabolic Disease

published in

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volume

33 Suppl 3

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page(s)

S5-11

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

cites work

1 reference

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Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-008-1063-Y

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

21 January 2018

1 reference

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Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1063-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1063-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1063-Y

The clinical syndrome of creatine transporter deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1063-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1063-Y

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1063-Y

High frequency of creatine deficiency syndromes in patients with unexplained mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1063-Y

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%2FS10545-008-1063-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1063-Y

High prevalence of SLC6A8 deficiency in X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1063-Y

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%2FS10545-008-1063-Y

10.1007/S10545-008-1063-Y

21 January 2018

Identifiers

DOI

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2 March 2018

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2 March 2018