Glucose transporter 1 deficiency syndrome: nutritional and growth pattern phenotypes at diagnosis.
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| Abstract |    :  
                  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 |    :  
                  2020 
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| Journal |    :  
                  European journal of clinical nutrition 
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| Volume |    :  
                  74 
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| Issue |    :  
                  9 
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| Number of Pages |    :  
                  1290-1298 
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| ISSN Number |    :  
                  0954-3007 
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| URL |    :  
                  https://doi.org/10.1038/s41430-020-0662-z 
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| DOI |    :  
                  10.1038/s41430-020-0662-z 
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| Short Title |    :  
                  Eur J Clin Nutr 
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