(Q48585904)

13 February 2018

title

Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness. (English)

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13 February 2018

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8

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author name string

Hitoshi Osaka

1

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13 February 2018

Atsushi Takagi

2

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13 February 2018

Yu Tsuyusaki

3

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13 February 2018

Takahito Wada

4

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13 February 2018

Mizue Iai

5

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13 February 2018

Sumimasa Yamashita

6

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13 February 2018

Hiroko Shimbo

7

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13 February 2018

Gajja S Salomons

9

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13 February 2018

Cornelis Jakobs

10

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13 February 2018

Noriko Aida

11

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13 February 2018

Shinka Toshihiro

12

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13 February 2018

Tomiko Kuhara

13

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13 February 2018

Naomichi Matsumoto

14

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13 February 2018

publication date

5 March 2012

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13 February 2018

Molecular Genetics and Metabolism

published in

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13 February 2018

volume

106

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13 February 2018

issue

1

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13 February 2018

page(s)

43-47

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13 February 2018

Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.

cites work

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.018

Disorders of creatine transport and metabolism.

7 January 2021

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.018

High prevalence of SLC6A8 deficiency in X-linked mental retardation

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.018

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.018

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.018

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.018

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.018

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.018

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.018

Creatine transporter deficiency in two half-brothers.

7 January 2021

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.018

X-linked creatine transporter defect: an overview

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.018

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.018

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.018

Fis1 and Bap31 bridge the mitochondria-ER interface to establish a platform for apoptosis induction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.018

Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.018

10.1016/J.YMGME.2012.02.018

7 January 2021

Identifiers

DOI

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13 February 2018

release_4tkydywyi5a3ley674ifih7ihq

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4tkydywyi5a3ley674ifih7ihq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

13 February 2018