GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier (Q24309065)

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9 November 2019

title

GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier (English)

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9 November 2019

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encephalopathy due to GLUT1 deficiency

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9

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9 November 2019

author name string

Seidner G

1

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9 November 2019

Alvarez MG

2

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9 November 2019

Yeh JI

3

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9 November 2019

O'Driscoll KR

4

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9 November 2019

Klepper J

5

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9 November 2019

Stump TS

6

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9 November 2019

Wang D

7

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9 November 2019

Spinner NB

8

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9 November 2019

De Vivo DC

10

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9 November 2019

language of work or name

English

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publication date

1 February 1998

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9 November 2019

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9 November 2019

volume

18

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9 November 2019

issue

2

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9 November 2019

page(s)

188-191

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C-terminal truncated glucose transporter is locked into an inward-facing form without transport activity

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1038/NG0298-188

Defective Glucose Transport across the Blood-Brain Barrier as a Cause of Persistent Hypoglycorrhachia, Seizures, and Developmental Delay

20 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-188

Facilitative glucose transporters

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-188

7 January 2021

Glucose transporter proteins in brain

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-188

7 January 2021

Sequence and structure of a human glucose transporter

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-188

7 January 2021

Cloning and characterization of a cDNA encoding the rat brain glucose-transporter protein

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-188

7 January 2021

Polymorphic human glucose transporter gene (GLUT) is on chromosome 1p31.3----p35

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-188

7 January 2021

Characterization and expression of human HepG2/erythrocyte glucose-transporter gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-188

7 January 2021

Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-188

7 January 2021

Human cyclophilin B: a second cyclophilin gene encodes a peptidyl-prolyl isomerase with a signal sequence

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-188

7 January 2021

Identifiers

DOI

10.1038/NG0298-188

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9462754%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

9 November 2019

1034943783

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