Adenine Phosphoribosyltransferase Deficiency

Common Name(s)

Adenine Phosphoribosyltransferase 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 "Adenine Phosphoribosyltransferase 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 "Adenine Phosphoribosyltransferase Deficiency" returned 15 free, full-text research articles on human participants. First 3 results:

[The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan].
 

Author(s): Hirokazu Ikeda, Tsuneki Watanabe, Yoko Fujimoto, Shouhei Yamamoto, Ichiro Hosaki, Keiichi Isoyama, Shinya Kawano, Masahiro Chiba

Journal: Hinyokika Kiyo. 2011 Jan;57(1):15-9.

 

Adenine phosphoribosyltransferase (APRT) deficiency is an enzyme deficiency associated with purine metabolism, a hereditary disease that causes recurrent 2, 8-DHA stone formation due to a complete or partial APRT defect and slowly damages the renal function. Since APRT deficiency ...

Last Updated: 9 Feb 2011

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Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.
 

Author(s): Guillaume Bollée, Cécile Dollinger, Lucile Boutaud, Delphine Guillemot, Albert Bensman, Jérôme Harambat, Patrice Deteix, Michel Daudon, Bertrand Knebelmann, Irène Ceballos-Picot

Journal: J. Am. Soc. Nephrol.. 2010 Apr;21(4):679-88.

 

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder causing 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. Little is known regarding the clinical presentation of APRT deficiency, especially ...

Last Updated: 1 Apr 2010

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Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient.
 

Author(s): Michael J D Cassidy, Tom McCulloch, Lynette D Fairbanks, H Anne Simmonds

Journal: Nephrol. Dial. Transplant.. 2004 Mar;19(3):736-8.

 

Last Updated: 9 Feb 2004

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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 "Adenine Phosphoribosyltransferase Deficiency" returned 1 free, full-text review articles on human participants. First 3 results:

Adenine phosphoribosyltransferase deficiency.
 

Author(s): Guillaume Bollée, Jérôme Harambat, Albert Bensman, Bertrand Knebelmann, Michel Daudon, Irène Ceballos-Picot

Journal: Clin J Am Soc Nephrol. 2012 Sep;7(9):1521-7.

 

Complete adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexcretion of 2,8-dihydroxyadenine (DHA) into urine. The low solubility of DHA results in precipitation of this compound and the formation of urinary ...

Last Updated: 10 Sep 2012

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Health-related Quality of Life in Rare Kidney Stone
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria; Cystinuria; Adenine Phosphoribosyl Transferase Deficiency; Dent Disease

 

Last Updated: 24 Apr 2014

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Rare Kidney Stone Consortium Patient Registry
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria; Dent Disease; Cystinuria; APRT Deficiency

 

Last Updated: 19 Dec 2013

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Biobank Protocol, Rare Diseases Clinical Research Network
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria; Dent Disease; APRT Deficiency; Cystinuria

 

Last Updated: 31 Dec 2013

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