Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Fanconi Bickel syndrome is an autosomal recessive glycogen storage disease caused by mutations of the SLC2A2 gene. It is characterized by glycogen accumulation in both kidney and liver. The symptoms include renotubular dysfunction, failure to thrive, and hepatospenomegaly.
The syndrome was first described by Fanconi and Bickel in 1949.[Error: Macro 'ref' doesn't exist]
| Proximal tubular damage syndrome | |
 |
Fanconi syndrome was the general term describing all diseases with procimal tubular damage until distinct diseases have been characterized. |
| 1. |
FANCONI G et al. (1949) [Not Available] 
|
| 2. |
Lee PJ et al. (1995) Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch.
|
| 3. |
Berry GT et al. (1995) Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome.
|
| 4. |
Müller D et al. (1997) Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia.
|
| 5. |
None (1957) [The glucagon problem in glycogenosis.]
|
| 6. |
Manz F et al. (1987) Fanconi-Bickel syndrome.
|
| 7. |
OMIM.ORG article Omim 227810
|
| 8. |
Wikipedia article Wikipedia EN (Glycogen_storage_disease_type_XI)
|
 |
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |
