Phosphoglycerate kinase deficiency

Common Name(s)

Phosphoglycerate kinase deficiency

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Phosphoglycerate kinase 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 "Phosphoglycerate kinase deficiency" returned 7 free, full-text research articles on human participants. First 3 results:

Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency.
 

Author(s): Laurent R Chiarelli, Simone M Morera, Paola Bianchi, Elisa Fermo, Alberto Zanella, Alessandro Galizzi, Giovanna Valentini

Journal: PLoS ONE. 2012 ;7(2):e32065.

 

Phosphoglycerate kinase (PGK) catalyzes an important ATP-generating step in glycolysis. PGK1 deficiency is an uncommon X-linked inherited disorder, generally characterized by various combinations of non-spherocytic hemolytic anemia, neurological dysfunctions, and myopathies. Patients ...

Last Updated: 20 Feb 2012

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Gene therapy for canine leukocyte adhesion deficiency with lentiviral vectors using the murine stem cell virus and human phosphoglycerate kinase promoters.
 

Author(s): Michael J Hunter, Huifen Zhao, Laura M Tuschong, Thomas R Bauer, Tanya H Burkholder, Derek A Persons, Dennis D Hickstein

Journal: Hum. Gene Ther.. 2011 Jun;22(6):689-96.

 

Children with leukocyte adhesion deficiency type 1 (LAD-1) and dogs with canine LAD (CLAD) develop life-threatening bacterial infections due to mutations in the leukocyte integrin CD18. Here, we compared the human phosphoglycerate kinase (hPGK) promoter to the murine stem cell virus ...

Last Updated: 9 Jun 2011

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Familial phosphoglycerate kinase deficiency associated with rhabdomyolysis and acute renal failure: abnormality in mRNA splicing?
 

Author(s): Costel Spanu, Sebastian Oltean

Journal: Nephrol. Dial. Transplant.. 2003 Feb;18(2):445-6.

 

Last Updated: 24 Jan 2003

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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 "Phosphoglycerate kinase 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.