Glycogen storage disease type XI
- Glycogen storage disease type XI
Infobox_Disease
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Glycogen storage disease type XI is a form of glycogen storage disease.
It is also known as "Fanconi-Bickel syndrome", for Guido Fanconi and Horst Bickel. [WhoNamedIt|synd|65] [cite journal |author=FANCONI G, BICKEL H |title=Not Available |language=Undetermined |journal=Helv Paediatr Acta |volume=4 |issue=5 |pages=359–96 |year=1949 |month=November |pmid=15397919 |doi= |url=] ]It is associated with GLUT2.[cite journal |author=Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B |title=Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature |journal=Eur. J. Pediatr. |volume=157 |issue=10 |pages=783–97 |year=1998 |month=October |pmid=9809815 |doi= |url=http://link.springer.de/link/service/journals/00431/bibs/8157010/81570783.htm] ][cite journal |author=Santer R, Steinmann B, Schaub J |title=Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport |journal=Curr. Mol. Med. |volume=2 |issue=2 |pages=213–27 |year=2002 |month=March |pmid=11949937 |doi= |url=http://www.bentham-direct.org/pages/content.php?CMM/2002/00000002/00000002/0010M.SGM] ][cite journal |author=Santer R, Groth S, Kinner M, "et al" |title=The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome |journal=Hum. Genet. |volume=110 |issue=1 |pages=21–9 |year=2002 |month=January |pmid=11810292 |doi=10.1007/s00439-001-0638-6 |url=http://dx.doi.org/10.1007/s00439-001-0638-6] ]References
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