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ALLMedicine™ Adenine Phosphoribosyltransferase Deficiency Center

Research & Reviews  11 results

An Unusual Course of a 2,8-Dihydroxyadeninuria Crystalline Nephropathy Secondary to Ade...
https://doi.org/10.1159/000516281
Nephron Nourié N, Nassereddine H et. al.

May 28th, 2021 - Adenine phosphoribosyltransferase (APRT) deficiency is a rare disorder caused by an autosomal recessive genetic disease leading to the deposition of 2,8-dihydroxyadenine (2,8-DHA) in the kidney. The disease remains under-recognized, oftentimes dia...

Allele frequency of variants reported to cause adenine phosphoribosyltransferase defici...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8298615
European Journal of Human Genetics : EJHG; Runolfsdottir HL, Sayer JA et. al.

Mar 13th, 2021 - Adenine phosphoribosyltransferase deficiency is a rare, autosomal recessive disorder of purine metabolism that causes nephrolithiasis and progressive chronic kidney disease. The small number of reported cases indicates an extremely low prevalence,...

Cellular and Molecular Mechanisms of Kidney Injury in 2,8-Dihydroxyadenine Nephropathy.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7191925
Journal of the American Society of Nephrology : JASN; Klinkhammer BM, Djudjaj S et. al.

Feb 23rd, 2020 - Hereditary deficiency of adenine phosphoribosyltransferase causes 2,8-dihydroxyadenine (2,8-DHA) nephropathy, a rare condition characterized by formation of 2,8-DHA crystals within renal tubules. Clinical relevance of rodent models of 2,8-DHA crys...

Kidney Transplant Outcomes in Patients With Adenine Phosphoribosyltransferase Deficiency.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7316615
Transplantation Runolfsdottir HL, Palsson R et. al.

Dec 28th, 2019 - Adenine phosphoribosyltransferase (APRT) deficiency is a rare, hereditary cause of kidney stones and chronic kidney disease (CKD) which is characterized by 2,8-dihydroxyadenine renal parenchymal crystal deposition. The aim of this study was to exa...

Adenine phosphoribosyltransferase deficiency
https://rarediseases.info.nih.gov/diseases/546/adenine-phosphoribosyltransferase-deficiency

Aug 1st, 2019 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 976 Definition A rare genetic nephropathy secondary to a disorder of purine metabolism characterized by the format...

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