(Q43174751)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20129935%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20129935%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

0 references

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20129935%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Todd Arthur

8

1 reference

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17 January 2020

Diana Ballhausen

10

1 reference

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17 January 2020

Rob Forsyth

22

1 reference

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17 January 2020

Christian G E L de Goede

23

1 reference

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17 January 2020

Katherine L Lachlan

28

1 reference

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17 January 2020

author name string

Wilhelmina G Leen

1

1 reference

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17 January 2020

Joerg Klepper

2

1 reference

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17 January 2020

Marcel M Verbeek

3

1 reference

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17 January 2020

Maike Leferink

4

1 reference

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17 January 2020

Tom Hofste

5

1 reference

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17 January 2020

Baziel G van Engelen

6

1 reference

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17 January 2020

Ron A Wevers

7

1 reference

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17 January 2020

Nadia Bahi-Buisson

9

1 reference

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17 January 2020

Jolita Bekhof

11

1 reference

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17 January 2020

Patrick van Bogaert

12

1 reference

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17 January 2020

Inês Carrilho

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20129935%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Brigitte Chabrol

14

1 reference

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17 January 2020

Michael P Champion

15

1 reference

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17 January 2020

James Coldwell

16

1 reference

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17 January 2020

Peter Clayton

17

1 reference

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17 January 2020

Elizabeth Donner

18

1 reference

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17 January 2020

Athanasios Evangeliou

19

1 reference

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17 January 2020

Friedrich Ebinger

20

1 reference

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17 January 2020

Kevin Farrell

21

1 reference

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17 January 2020

Stephanie Gross

24

1 reference

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17 January 2020

Stephanie Grunewald

25

1 reference

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17 January 2020

Hans Holthausen

26

1 reference

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17 January 2020

Sandeep Jayawant

27

1 reference

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17 January 2020

Vincent Laugel

29

1 reference

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17 January 2020

Kathy Leppig

30

1 reference

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17 January 2020

Ming J Lim

31

1 reference

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17 January 2020

Grazia Mancini

32

1 reference

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17 January 2020

Adela Della Marina

33

1 reference

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17 January 2020

Loreto Martorell

34

1 reference

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17 January 2020

Joe McMenamin

35

1 reference

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17 January 2020

Marije E C Meuwissen

36

1 reference

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17 January 2020

Helen Mundy

37

1 reference

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17 January 2020

Nils O Nilsson

38

1 reference

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17 January 2020

Axel Panzer

39

1 reference

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17 January 2020

Bwee T Poll-The

40

1 reference

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17 January 2020

Christian Rauscher

41

1 reference

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17 January 2020

Christophe M R Rouselle

42

1 reference

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17 January 2020

Inger Sandvig

43

1 reference

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17 January 2020

Thomas Scheffner

44

1 reference

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17 January 2020

Eamonn Sheridan

45

1 reference

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17 January 2020

Neil Simpson

46

1 reference

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17 January 2020

Parol Sykora

47

1 reference

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17 January 2020

Richard Tomlinson

48

1 reference

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17 January 2020

John Trounce

49

1 reference

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17 January 2020

David Webb

50

1 reference

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17 January 2020

Bernhard Weschke

51

1 reference

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17 January 2020

Michél A Willemsen

53

1 reference

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17 January 2020

language of work or name

English

0 references

publication date

2 February 2010

1 reference

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17 January 2020

1 reference

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17 January 2020

volume

133

1 reference

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17 January 2020

issue

Pt 3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20129935%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

page(s)

655-670

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20129935%20AND%20SRC:MED&resulttype=core&format=json

The expanding phenotype of GLUT1-deficiency syndrome

17 January 2020

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1 reference

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Autosomal dominant glut-1 deficiency syndrome and familial epilepsy

21 January 2018

1 reference

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Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet

21 January 2018

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Structural analysis of the GLUT1 facilitative glucose transporter (review).

21 January 2018

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Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome

21 January 2018

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The extended GLUT-family of sugar/polyol transport facilitators: nomenclature, sequence characteristics, and potential function of its novel members (review)

21 January 2018

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GLUT1 deficiency without epilepsy: yet another case

21 January 2018

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Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome.

21 January 2018

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GLUT1 deficiency with delayed myelination responding to ketogenic diet.

21 January 2018

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Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain-- a review

21 January 2018

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Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome

21 January 2018

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Autosomal dominant transmission of GLUT1 deficiency

21 January 2018

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Sequence and structure of a human glucose transporter

21 January 2018

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Analysis of transmembrane segment 10 of the Glut1 glucose transporter by cysteine-scanning mutagenesis and substituted cysteine accessibility

21 January 2018

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Model of the exofacial substrate-binding site and helical folding of the human Glut1 glucose transporter based on scanning mutagenesis

21 January 2018

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GLUT‐1 deficiency without epilepsy—an exceptional case

21 January 2018

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Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy

21 January 2018

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Predicting the three-dimensional structure of the human facilitative glucose transporter glut1 by a novel evolutionary homology strategy: insights on the molecular mechanism of substrate migration, and binding sites for glucose and inhibitory molecu

21 January 2018

1 reference

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A conserved amino acid motif (R-X-G-R-R) in the Glut1 glucose transporter is an important determinant of membrane topology

21 January 2018

1 reference

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GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias

21 January 2018

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 January 2018

1 reference

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

21 January 2018

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New GLUT-1 mutation in a child with treatment-resistant epilepsy

21 January 2018

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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

21 January 2018

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Molecular analysis and anticonvulsant therapy in two patients with glucose transporter 1 deficiency syndrome: a successful use of zonisamide for controlling the seizures

21 January 2018

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GLUT-1 deficiency syndrome or De Vivo disease: a case report

21 January 2018

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A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development

21 January 2018

1 reference

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Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects

21 January 2018

1 reference

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Altered vitamin D metabolism in type II diabetic mouse glomeruli may provide protection from diabetic nephropathy.

21 January 2018

1 reference

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Paroxysmal movement disorders in GLUT1 deficiency syndrome

21 January 2018

1 reference

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