Glucose transporter 1 deficiency syndrome: nutritional and growth pattern phenotypes at diagnosis.
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Abstract |
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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 delayed growth has also been suggested. This led us to investigate, at diagnosis, the relationship between the glycemia/glycorrhachia ratio and the nutritional and growth pattern phenotype of 30 GLUT-DS patients. |
Year of Publication |
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2020
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Journal |
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European journal of clinical nutrition
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Volume |
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74
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Issue |
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9
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Number of Pages |
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1290-1298
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ISSN Number |
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0954-3007
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URL |
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https://doi.org/10.1038/s41430-020-0662-z
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DOI |
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10.1038/s41430-020-0662-z
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Short Title |
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Eur J Clin Nutr
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