Fanconi Bickel Syndrome

Common Name(s)

Fanconi Bickel Syndrome

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fanconi Bickel Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fanconi Bickel Syndrome" returned 8 free, full-text research articles on human participants. First 3 results:

Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation.
 

Author(s): Ruchi Shah, Sudha Rao, Ruchi Parikh, Tahir Sophia, Hussain Khalid

Journal: Indian Pediatr. 2016 Sep;53(9):829-830.

 

Fanconi Bickel Syndrome is a rare, autosomal recessive, disorder of carbohydrate metabolism. Presence of hypercalciuria is rare.

Last Updated: 23 Oct 2016

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Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation.
 

Author(s): Imad Mohammad Dweikat, Issa Shaher Alawneh, Sami Fares Bahar, Mutaz Idrees Sultan

Journal:

 

Fanconi-Bickel syndrome (FBS, OMIM 227810) is a rare autosomal recessive disease caused by a deficiency of glucose transporter 2 (GLUT2), a member of the facilitative glucose transporter family (Santer et al. J Inherit Metab Dis 21:191-194, 1998). The typical clinical picture is characterized ...

Last Updated: 4 Aug 2016

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[SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome].
 

Author(s): Wei Wang, Min Wei, Hong-Mei Song, Zheng-Qing Qiu, Le-Jia Zhang, Zhuo Li, Xiao-Yan Tang

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2015 Apr;17(4):362-6.

 

Fanconi-Bickel syndrome (FBS, OMIM 227810), a rare autosomal recessive disorder of carbohydrate metabolism, is caused by SLC2A2 (GLUT2) mutations. The study reported 3 cases of FBS who were confirmly diagnosed by SLC2A2 gene analysis. The three patients showed typical features like ...

Last Updated: 29 Apr 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fanconi Bickel Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.