Literature DB >> 14767036

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

Michael J D Cassidy1, Tom McCulloch, Lynette D Fairbanks, H Anne Simmonds.   

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Year:  2004        PMID: 14767036     DOI: 10.1093/ndt/gfg562

Source DB:  PubMed          Journal:  Nephrol Dial Transplant        ISSN: 0931-0509            Impact factor:   5.992


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  18 in total

1.  A rare case of primary non-function of renal allograft due to adenine phosphoribosyltransferase deficiency.

Authors:  Benoit Brilland; Jean-François Augusto; Anne Croue; Jean-François Subra; Johnny Sayegh
Journal:  Int Urol Nephrol       Date:  2015-08-09       Impact factor: 2.370

2.  Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency.

Authors:  Siew Le Chong; Yong Hong Ng
Journal:  World J Pediatr       Date:  2015-12-18       Impact factor: 2.764

Review 3.  Tubular and genetic disorders associated with kidney stones.

Authors:  Nilufar Mohebbi; Pietro Manuel Ferraro; Giovanni Gambaro; Robert Unwin
Journal:  Urolithiasis       Date:  2016-11-28       Impact factor: 3.436

4.  Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.

Authors:  Margret Thorsteinsdottir; Unnur A Thorsteinsdottir; Finnur F Eiriksson; Hrafnhildur L Runolfsdottir; Inger M Sch Agustsdottir; Steinunn Oddsdottir; Baldur B Sigurdsson; Hordur K Hardarson; Nilesh R Kamble; Snorri Th Sigurdsson; Vidar O Edvardsson; Runolfur Palsson
Journal:  J Chromatogr B Analyt Technol Biomed Life Sci       Date:  2016-09-14       Impact factor: 3.205

5.  Crystalline Nephropathy due to APRT Deficiency: A Preventable Cause of Renal and Renal Allograft Failure.

Authors:  Prashant Rajput; Zaheer A Virani; Bharat V Shah
Journal:  Indian J Nephrol       Date:  2020-04-01

Review 6.  Primary disease recurrence—effects on paediatric renal transplantation outcomes.

Authors:  Justine Bacchetta; Pierre Cochat
Journal:  Nat Rev Nephrol       Date:  2015-04-28       Impact factor: 28.314

7.  2, 8 Dihydroxyadenine urolithiasis: A case report and review of literature.

Authors:  P Sreejith; K L Narasimhan; V Sakhuja
Journal:  Indian J Nephrol       Date:  2009-01

Review 8.  Hereditary causes of kidney stones and chronic kidney disease.

Authors:  Vidar O Edvardsson; David S Goldfarb; John C Lieske; Lada Beara-Lasic; Franca Anglani; Dawn S Milliner; Runolfur Palsson
Journal:  Pediatr Nephrol       Date:  2013-01-20       Impact factor: 3.714

9.  Recurrent 2,8-dihydroxyadenine nephropathy: a rare but preventable cause of renal allograft failure.

Authors:  M Zaidan; R Palsson; E Merieau; E Cornec-Le Gall; A Garstka; U Maggiore; P Deteix; M Battista; E-R Gagné; I Ceballos-Picot; J-P Duong Van Huyen; C Legendre; M Daudon; V O Edvardsson; B Knebelmann
Journal:  Am J Transplant       Date:  2014-10-10       Impact factor: 8.086

10.  Kidney Transplant Outcomes in Patients With Adenine Phosphoribosyltransferase Deficiency.

Authors:  Hrafnhildur Linnet Runolfsdottir; Runolfur Palsson; Inger M Sch Agustsdottir; Olafur S Indridason; Jennifer Li; Myriam Dao; Bertrand Knebelmann; Dawn S Milliner; Vidar O Edvardsson
Journal:  Transplantation       Date:  2020-10       Impact factor: 5.385

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