Glycogen storage disease type XI
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| Glycogen storage disease type XI | |
| OMIM | 227810 |
|---|---|
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Fanconi-Bickel syndrome
Overview[edit | edit source]
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.[1][2]
It is associated with GLUT2.[3][4][5]
References[edit | edit source]
- ↑ Template:WhoNamedIt
- ↑ FANCONI G, BICKEL H (1949). "Not Available". Helv Paediatr Acta (in Undetermined). 4 (5): 359–96. PMID 15397919. Unknown parameter
|month=ignored (help) - ↑ Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B (1998). "Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature". Eur. J. Pediatr. 157 (10): 783–97. PMID 9809815. Unknown parameter
|month=ignored (help) - ↑ Santer R, Steinmann B, Schaub J (2002). "Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport". Curr. Mol. Med. 2 (2): 213–27. PMID 11949937. Unknown parameter
|month=ignored (help) - ↑ Santer R, Groth S, Kinner M; et al. (2002). "The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome". Hum. Genet. 110 (1): 21–9. doi:10.1007/s00439-001-0638-6. PMID 11810292. Unknown parameter
|month=ignored (help)
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