(Q50301309)

2 March 2018

title

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

1 reference

2 March 2018

creatine transporter deficiency

main subject

1 reference

H Puusepp

1

1 reference

2 March 2018

K Kall

2

1 reference

2 March 2018

G S Salomons

3

1 reference

2 March 2018

I Talvik

4

1 reference

2 March 2018

M Männamaa

5

1 reference

2 March 2018

R Rein

6

1 reference

2 March 2018

C Jakobs

7

1 reference

2 March 2018

K Õunap

8

1 reference

2 March 2018

publication date

1 December 2010

1 reference

2 March 2018

Journal of Inherited Metabolic Disease

published in

1 reference

2 March 2018

volume

33 Suppl 3

1 reference

2 March 2018

page(s)

S5-11

1 reference

2 March 2018

https://scigraph.springernature.com/pub.10.1007/s10545-008-1063-y

exact match

0 references

cites work

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

1 reference

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

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

21 January 2018

1 reference

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

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

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

1 reference

2 March 2018

1 reference

2 March 2018