Literature DB >> 25862022

An infant with nephrolithiasis and renal failure: Answers.

Kazuyuki Ueno1, Masaki Shimizu2, Tatsuya Kubo1, Noboru Igarashi1, Kiyoshi Hatasaki1.   

Abstract

Entities:  

Keywords:  2,8-Dihydroxyadenine crystals; Adenine phosphoribosyltransferase deficiency; Autosomal recessive metabolic disease; Chronic kidney disease; Xanthine dehydrogenase inhibitor allopurinol

Mesh：

Substances：

Year:  2015        PMID： 25862022     DOI： 10.1007/s00467-015-3100-z

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


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  8 in total

1.  8-Hydroxyadenine as the intermediate in the oxidation of adenine to 2, 8-dihydroxyadenine by xanthine oxidase.

Authors:  J B WYNGAARDEN; J T DUNN
Journal:  Arch Biochem Biophys       Date:  1957-07       Impact factor: 4.013

2.  Family study of 2,8-dihydroxyadenine stone formation: report of two cases of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0).

Authors:  K Suzuki; S Kobayashi; K Kawamura; T Kuhara; R Tsugawa
Journal:  Int J Urol       Date:  1997-05       Impact factor: 3.369

3.  Complete deficiency of adenine phosphoribosyltransferase. Report of a family.

Authors:  K J Van Acker; H A Simmonds; C Potter; J S Cameron
Journal:  N Engl J Med       Date:  1977-07-21       Impact factor: 91.245

4.  Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland.

Authors:  V Edvardsson; R Palsson; I Olafsson; G Hjaltadottir; T Laxdal
Journal:  Am J Kidney Dis       Date:  2001-09       Impact factor: 8.860

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.  Decreased kidney function and crystal deposition in the tubules after kidney transplant.

Authors:  Piero Stratta; Giovanni Battista Fogazzi; Caterina Canavese; Andrea Airoldi; Roberta Fenoglio; Cristina Bozzola; Irène Ceballos-Picot; Guillaume Bollée; Michel Daudon
Journal:  Am J Kidney Dis       Date:  2010-03-19       Impact factor: 8.860

Review 7.  [2,8-dihydroxyadenine nephrolithiasis: from diagnosis to therapy].

Authors:  H Bouzidi; B Lacour; M Daudon
Journal:  Ann Biol Clin (Paris)       Date:  2007 Nov-Dec       Impact factor: 0.459

8.  Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man.

Authors:  W N Kelley; R I Levy; F M Rosenbloom; J F Henderson; J E Seegmiller
Journal:  J Clin Invest       Date:  1968-10       Impact factor: 14.808
  8 in total

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