Late Diagnosis of Fanconi-Bickel Syndrome
Fanconi-Bickel syndrome (FBS), also known as glycogen storage disease type XI (GSD XI), is a rare autosomal recessive disorder of carbohydrate metabolism. It is caused by mutations in the gene SLC2A2 , which encodes for the facilitative glucose transporter GLUT2. Diagnosis of FBS is often delayed si...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SciELO
2016-11-01
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| Series: | Journal of Inborn Errors of Metabolism and Screening |
| Online Access: | https://doi.org/10.1177/2326409816679430 |