Literature DB >> 33826114

Rapidly progressive kidney dysfunction and crystal casts associated with adenine phosphoribosyltransferase (APRT) deficiency-lessons for the clinical nephrologist.

Keita Yamazaki1, Katsuhito Miyazawa2, Yo Nida3, Kengo Furuichi4, Hitoshi Yokoyama4.   

Abstract

Entities:  

Keywords:  2,8-Dihydroxyadenine; Novel mutation; Phosphoribosyltransferase (APRT) deficiency; XDH inhibitor

Mesh：

Substances：

Year:  2021        PMID： 33826114     DOI： 10.1007/s40620-021-01042-w

Source DB:  PubMed          Journal:  J Nephrol        ISSN： 1121-8428            Impact factor:   3.902


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  8 in total

1.  The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era.

Authors:  N Kamatani; C Terai; S Y Kim; C L Chen; H Yamanaka; M Hakoda; S Totokawa; S Kashiwazaki
Journal:  Hum Genet       Date:  1996-11       Impact factor: 4.132

2.  Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.

Authors:  Hrafnhildur Linnet Runolfsdottir; Runolfur Palsson; Inger M Agustsdottir; Olafur S Indridason; Vidar O Edvardsson
Journal:  Am J Kidney Dis       Date:  2015-12-25       Impact factor: 8.860

3.  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

Review 4.  2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.

Authors:  Irène Ceballos-Picot; Michel Daudon; Jérôme Harambat; Albert Bensman; Bertrand Knebelmann; Guillaume Bollée
Journal:  Nucleosides Nucleotides Nucleic Acids       Date:  2014       Impact factor: 1.381

5.  Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.

Authors:  Vidar O Edvardsson; Hrafnhildur L Runolfsdottir; Unnur A Thorsteinsdottir; Inger M Sch Agustsdottir; G Steinunn Oddsdottir; Finnur Eiriksson; David S Goldfarb; Margret Thorsteinsdottir; Runolfur Palsson
Journal:  Eur J Intern Med       Date:  2017-12-12       Impact factor: 4.487

6.  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

7.  FT-IR analysis of urinary stones: a helpful tool for clinician comparison with the chemical spot test.

Authors:  Aniello Primiano; Silvia Persichilli; Giovanni Gambaro; Pietro Manuel Ferraro; Alessandro D'Addessi; Andrea Cocci; Arcangelo Schiattarella; Cecilia Zuppi; Jacopo Gervasoni
Journal:  Dis Markers       Date:  2014-04-27       Impact factor: 3.434

8.  Adenine Phosphoribosyltransferase Deficiency: A Potentially Reversible Cause of CKD.

Authors:  Jennifer Li; Meena Shingde; Brian J Nankivell; Michel C Tchan; Bhadran Bose; Jeremy R Chapman; Kathy Kable; Sul Ki Kim; Mirna Vucak-Dzumhur; Germaine Wong; Gopala K Rangan
Journal:  Kidney Int Rep       Date:  2019-05-07
  8 in total

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