Evaluation of non-coding variation in GLUT1 deficiency

Liu, Yu-Chi, Lee, Jia Wei Audrey, Bellows, Susannah T., Damiano, John A., Mullen, Saul A., Berkovic, Samuel F., Bahlo, Melanie, Scheffer, Ingrid E., Hildebrand, Michael S. and Clinical Group 2016, Evaluation of non-coding variation in GLUT1 deficiency, Developmental Medicine & Child Neurology, vol. 58, no. 12, pp. 1295-1302, doi: 10.1111/dmcn.13163.

Attached Files
Name Description MIMEType Size Downloads

Title Evaluation of non-coding variation in GLUT1 deficiency
Author(s) Liu, Yu-Chi
Lee, Jia Wei Audrey
Bellows, Susannah T.
Damiano, John A.
Mullen, Saul A.
Berkovic, Samuel F.
Bahlo, Melanie
Scheffer, Ingrid E.
Hildebrand, Michael S.
Clinical Group
Journal name Developmental Medicine & Child Neurology
Volume number 58
Issue number 12
Start page 1295
End page 1302
Total pages 8
Publisher Wiley
Place of publication Chichester, Eng.
Publication date 2016-12
ISSN 0012-1622
1469-8749
Keyword(s) Adult
Carbohydrate Metabolism, Inborn Errors
Child, Preschool
Epilepsy
Exome
Female
Glucose
Glucose Transporter Type 1
Humans
Infant
Male
Monosaccharide Transport Proteins
Pedigree
Sequence Analysis
Clinical Group
Science & Technology
Life Sciences & Biomedicine
Clinical Neurology
Pediatrics
Neurosciences & Neurology
GLUCOSE-TRANSPORTER GLUT1
GLUCOSE-TRANSPORTER-1 DEFICIENCY
SLC2A1
METABOLISM
EXPRESSION
MUTATIONS
SPECTRUM
Language eng
DOI 10.1111/dmcn.13163
Field of Research 11 Medical And Health Sciences
HERDC Research category C1.1 Refereed article in a scholarly journal
Copyright notice ©2016, Mac Keith Press
Persistent URL http://hdl.handle.net/10536/DRO/DU:30110658

Document type: Journal Article
Collections: Faculty of Health
School of Psychology
Connect to link resolver
 
Unless expressly stated otherwise, the copyright for items in DRO is owned by the author, with all rights reserved.

Versions
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 10 times in TR Web of Science
Scopus Citation Count Cited 17 times in Scopus
Google Scholar Search Google Scholar
Access Statistics: 198 Abstract Views, 0 File Downloads  -  Detailed Statistics
Created: Tue, 10 Jul 2018, 10:27:41 EST

Every reasonable effort has been made to ensure that permission has been obtained for items included in DRO. If you believe that your rights have been infringed by this repository, please contact drosupport@deakin.edu.au.