Literature DB >> 1349069

2,8-Dihydroxyadenine urolithiasis, an underdiagnosed disease.

I Ceballos-Picot, J L Perignon, M Hamet, M Daudon, P Kamoun.   

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Year:  1992        PMID： 1349069

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  17 in total

1.  Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure.

Authors:  Giuseppina Marra; Paolo Gilles Vercelloni; Alberto Edefonti; Gianantonio Manzoni; Maria Angela Pavesi; Giovanni Battista Fogazzi; Giuseppe Garigali; Lionel Mockel; Irene Ceballos Picot
Journal:  JIMD Rep       Date:  2011-12-21

2.  Adenine phosphoribosyltransferase deficiency in children.

Authors:  Jérôme Harambat; Guillaume Bollée; Michel Daudon; Irène Ceballos-Picot; Albert Bensman
Journal:  Pediatr Nephrol       Date:  2012-01-03       Impact factor: 3.714

3.  Renal stone disease--investigative aspects.

Authors:  M J Henderson
Journal:  Arch Dis Child       Date:  1993-02       Impact factor: 3.791

Review 4.  Pediatric nephrolithiasis: a systematic approach from diagnosis to treatment.

Authors:  Giuseppina Marra; Francesca Taroni; Alfredo Berrettini; Emanuele Montanari; Gianantonio Manzoni; Giovanni Montini
Journal:  J Nephrol       Date:  2018-04-21       Impact factor: 3.902

5.  Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.

Authors:  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       Date:  2010-02-11       Impact factor: 10.121

6.  Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.

Authors:  S J Engle; M G Stockelman; J Chen; G Boivin; M N Yum; P M Davies; M Y Ying; A Sahota; H A Simmonds; P J Stambrook; J A Tischfield
Journal:  Proc Natl Acad Sci U S A       Date:  1996-05-28       Impact factor: 11.205

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.  Gout, uric acid and purine metabolism in paediatric nephrology.

Authors:  J S Cameron; F Moro; H A Simmonds
Journal:  Pediatr Nephrol       Date:  1993-02       Impact factor: 3.714

9.  Meeting report of the "Symposium on kidney stones and mineral metabolism: calcium kidney stones in 2017".

Authors:  Agnieszka Pozdzik; Naim Maalouf; Emmanuel Letavernier; Isabelle Brocheriou; Jean-Jacques Body; Benjamin Vervaet; Carl Van Haute; Johanna Noels; Romy Gadisseur; Vincent Castiglione; Frédéric Cotton; Giovanni Gambaro; Michel Daudon; Khashayar Sakhaee
Journal:  J Nephrol       Date:  2019-01-24       Impact factor: 3.902

10.  Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series.

Authors:  Hrafnhildur L Runolfsdottir; Tzu-Ling Lin; David S Goldfarb; John A Sayer; Mini Michael; David Ketteridge; Peter R Rich; Vidar O Edvardsson; Runolfur Palsson
Journal:  Urolithiasis       Date:  2020-05-12       Impact factor: 3.436
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