Glycosylphosphatidylinositol Deficiency

Common Name(s)

Glycosylphosphatidylinositol Deficiency

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Glycosylphosphatidylinositol Deficiency" 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 "Glycosylphosphatidylinositol Deficiency" returned 2 free, full-text research articles on human participants. First 3 results:

Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.
 

Author(s): Yoshiko Murakami, Noriyuki Kanzawa, Kazunobu Saito, Peter M Krawitz, Stefan Mundlos, Peter N Robinson, Anastasios Karadimitris, Yusuke Maeda, Taroh Kinoshita

Journal: J. Biol. Chem.. 2012 Feb;287(9):6318-25.

 

Hyperphosphatasia mental retardation syndrome (HPMR), an autosomal recessive disease characterized by mental retardation and elevated serum alkaline phosphatase (ALP) levels, is caused by mutations in the coding region of the phosphatidylinositol glycan anchor biosynthesis, class ...

Last Updated: 27 Feb 2012

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Glycosylphosphatidylinositol-anchored protein deficiency confers resistance to apoptosis in PNH.
 

Author(s): William J Savage, James P Barber, Galina L Mukhina, Rong Hu, Guibin Chen, William Matsui, Chris Thoburn, Allan D Hess, Linzhao Cheng, Richard J Jones, Robert A Brodsky

Journal: Exp. Hematol.. 2009 Jan;37(1):42-51.

 

Investigate the contribution of PIG-A mutations to clonal expansion in paroxysmal nocturnal hemoglobinuria (PNH).

Last Updated: 22 Dec 2008

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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 "Glycosylphosphatidylinositol Deficiency" 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.