| First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene. | |
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MedLine Citation:
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PMID: 20417043 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Glucose transporter type 1 deficiency syndrome (GLUT1DS) is increasingly recognized as a cause of various neurological disorders but a high index of suspicion is important to make the diagnosis. We report two Chinese patients with GLUT1DS, one of which had a novel mutation in the SLC2A1 gene. |
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Authors:
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Eva Lai-Wah Fung; Yuan Yuan Ho; Joannie Hui; Jack Ho Wong; Tzi-Bun Ng; Nga-Yin Fion Fong; Joerg Klepper; Kwok-Wing Stephen Tsui |
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Publication Detail:
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Type: Journal Article Date: 2010-04-22 |
Journal Detail:
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Title: Brain & development Volume: 33 ISSN: 1872-7131 ISO Abbreviation: Brain Dev. Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-01-24 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7909235 Medline TA: Brain Dev Country: Netherlands |
Other Details:
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Languages: eng Pagination: 170-3 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. |
Affiliation:
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Department of Paediatrics, The Chinese University of Hong Kong, Hong Kong, China. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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