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ALLMedicine™ Adenine Phosphoribosyltransferase Deficiency Center

Research & Reviews  25 results

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 27th, 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 - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/aprt-def/

Sep 25th, 2019 - Adenine phosphoribosyltransferase (APRT) deficiency is characterized by excessive production and renal excretion of 2,8-dihydroxyadenine (DHA), which leads to kidney stone formation and crystal-induced kidney damage (i.e., DHA crystal nephropathy)...

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

Jul 31st, 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...

Prospective Research Rare Kidney Stones (ProRKS)
https://clinicaltrials.gov/ct2/show/NCT02780297

Oct 17th, 2018 - Severe, hereditary forms of nephrolithiasis cause marked excretion of insoluble minerals important in stone formation, including primary hyperoxaluria, cystinuria, Dent disease, and adenine phosphoribosyltransferase deficiency (APRTd). Patients wi...

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Clinicaltrials.gov  25 results

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 27th, 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 - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/aprt-def/

Sep 25th, 2019 - Adenine phosphoribosyltransferase (APRT) deficiency is characterized by excessive production and renal excretion of 2,8-dihydroxyadenine (DHA), which leads to kidney stone formation and crystal-induced kidney damage (i.e., DHA crystal nephropathy)...

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

Jul 31st, 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...

Prospective Research Rare Kidney Stones (ProRKS)
https://clinicaltrials.gov/ct2/show/NCT02780297

Oct 17th, 2018 - Severe, hereditary forms of nephrolithiasis cause marked excretion of insoluble minerals important in stone formation, including primary hyperoxaluria, cystinuria, Dent disease, and adenine phosphoribosyltransferase deficiency (APRTd). Patients wi...

see more →