Literature DB >> 4086237

A rare enzyme deficiency causing formation of 2,8-dihydroxyadenine (purine body) calculi.

P Szönyi, M Berényi, J Tóth.   

Abstract

Deficiency in the enzyme adenine-phosphoribosyltransferase (APRT) has given rise to the formation of 2,8-dihydroxyadenine calculi, which are extremely rare. It is the first case of this kind reported in Hungary.

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Year:  1985        PMID： 4086237     DOI： 10.1007/BF02085409

Source DB:  PubMed          Journal:  Int Urol Nephrol        ISSN： 0301-1623            Impact factor:   2.370


  4 in total

Review 1.  2,8-Dihydroxyadeninuria--or when is a uric acid stone not a uric acid stone?

Authors:  H A Simmonds
Journal:  Clin Nephrol       Date:  1979-11       Impact factor: 0.975

2.  [Analysis of kidney calculi by ultramicrochemical methods].

Authors:  M Berényi
Journal:  Orv Hetil       Date:  1973-11-25       Impact factor: 0.540

3.  2,8-dihydroxyadenine stone in children.

Authors:  J Joost; W Doppler
Journal:  Urology       Date:  1982-07       Impact factor: 2.649

4.  [A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine].

Authors:  P Cartier; M Hamet; J Hamburger
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1974-09
  4 in total
  1 in total

1.  Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.

Authors:  N Kamatani; C Terai; S Kuroshima; K Nishioka; K Mikanagi
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132
  1 in total

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