doi: 10.1055/s-0033-1336015.
Epub 2013 Mar 12.
Absence of SLC2A1 mutations does not exclude Glut1 deficiency syndrome
- PMID: 23483445
- DOI: 10.1055/s-0033-1336015
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Absence of SLC2A1 mutations does not exclude Glut1 deficiency syndrome
Neuropediatrics.
2013 Aug.
Abstract
Increasingly, the absence of SLC2A1 mutations causes pediatricians to abandon the diagnosis of Glut1 deficiency. For several reasons this is not justified. Potential disease mechanisms in SLC2A1-negative Glut1 deficiency are discussed.
Georg Thieme Verlag KG Stuttgart · New York.
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