Glucose transporter 1 deficiency syndrome: nutritional and growth pattern phenotypes at diagnosis
Glucose transporter 1 deficiency syndrome: nutritional and growth pattern phenotypes at diagnosis
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Background/objectives
Glucose Transporter 1 Deficiency Syndrome (GLUT1-DS; OMIM #606777) is a rare disease caused by dominant mutations in SLC2A1 encoding GLUT1, which is a ubiquitous transporter of glucose across plasma membranes, particularly across the blood-brain barrier. Hypoglycorrhachia symptoms are the cornerstones of GLUT1-DS, but delay...
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Full title
Glucose transporter 1 deficiency syndrome: nutritional and growth pattern phenotypes at diagnosis
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TN_cdi_proquest_journals_2439756060
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2439756060
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ISSN
0954-3007
E-ISSN
1476-5640
DOI
10.1038/s41430-020-0662-z
