A rare case of glycogen storage disease type XI fanconi-bickel syndrome

• Main Authors: Manisha Garg (Author), Ashok Gupta (Author), Priyanshu Mathur (Author), Manish Sharma (Author), Rajesh Kumar (Author), Vikas Gupta (Author), M Manjunath (Author)
• Format: Book
• Published: Wolters Kluwer Medknow Publications, 2016-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Fanconi-Bickel syndrome (FBS) is an example of proximal Renal tubular dysfunction due to a single gene disorder, it is caused by defects in the facilitative glucose transporter 2 gene that codes for the glucose transporter protein 2 expressed in hepatocytes, pancreatic β-cells, enterocytes and renal...