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Glucose transporter 1 deficiency syndrome: nutritional and growth pattern phenotypes at diagnosis.

Author
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
Journal
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European journal of clinical nutrition
Volume
:
74
Issue
:
9
Number of Pages
:
1290-1298
ISSN Number
:
0954-3007
URL
:
https://doi.org/10.1038/s41430-020-0662-z
DOI
:
10.1038/s41430-020-0662-z
Short Title
:
Eur J Clin Nutr
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