Fanconi Bickel Syndrome

Common Name(s)

Fanconi Bickel Syndrome

Description for this condition is not yet available.
 

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Condition Specific Organizations

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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 6 free, full-text research articles on human participants. First 3 results:

Transient neonatal diabetes as a presentation of Fanconi- Bickel Syndrome.
 

Author(s): Aria Setoodeh, Ali Rabbani

Journal: Acta Med Iran. 2012 ;50(12):836-8.

 

Fanconi- Bickel Syndrome (FBS) is a rare type of glycogen storage disease (GSD) Characterized by hepatomegaly, proximal renal tubular acidosis (RTA) and marked growth retardation. We report a case of FBS presenting with diabetic ketoacidosis and transient neonatal diabetes. A female ...

Last Updated: 4 Mar 2013

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A new mutation of Fanconi-Bickel syndrome with liver failure and pseudotumour cerebri.
 

Author(s): Zohreh Karamizadeh, Forough Saki, Mohammad Hadi Imanieh, Mojgan Zahmatkeshan, Majid Fardaee

Journal: J. Genet.. 2012 ;91(3):359-61.

 

Last Updated: 28 Dec 2012

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Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.
 

Author(s): Michael Mannstadt, Daniella Magen, Hiroko Segawa, Takara Stanley, Amita Sharma, Shohei Sasaki, Clemens Bergwitz, Lourdes Mounien, Paul Boepple, Bernhard Thorens, Israel Zelikovic, Harald J├╝ppner

Journal: J. Clin. Endocrinol. Metab.. 2012 Oct;97(10):E1978-86.

 

Many inherited disorders of calcium and phosphate homeostasis are unexplained at the molecular level.

Last Updated: 8 Oct 2012

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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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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.