Literature DB >> 7766

Child's urinary lithiasis revealing a complete deficit in adenine phosphoribosyl transferase.

H Debray, P Cartier, A Temstet, J Cendron.   

Abstract

In one case of a urinary lithiasis, termed "uric lithiasis" on biochemical examination, the authors describe the symptomatology of a child with a complete deficit in adenine phosphoribosyl transferase. After more intensive investigation the calculi have been found to be composed of a new clinical compound: 2,8-hydroxyadenine.

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Year:  1976        PMID： 7766     DOI： 10.1203/00006450-197608000-00014

Source DB:  PubMed          Journal:  Pediatr Res        ISSN： 0031-3998            Impact factor:   3.756


  11 in total

1.  Long-term renal outcomes of APRT deficiency presenting in childhood.

Authors:  Hrafnhildur Linnet Runolfsdottir; Runolfur Palsson; Inger MSch Agustsdottir; Olafur S Indridason; Vidar O Edvardsson
Journal:  Pediatr Nephrol       Date:  2018-11-15       Impact factor: 3.714

2.  Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis.

Authors:  F Takeuchi; K Matsuta; T Miyamoto; S Enomoto; S Fujimori; I Akaoka; N Kamatani; K Nishioka
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  APRT deficiency: the need for early diagnosis.

Authors:  Aamira Huq; Kushma Nand; Rajiv Juneja; Ingrid Winship
Journal:  BMJ Case Rep       Date:  2018-10-23

4.  Human adenine phosphoribosyltransferase: characterization from subjects with a deficiency of enzyme activity.

Authors:  T E O'Toole; J M Wilson; M H Gault; W N Kelley
Journal:  Biochem Genet       Date:  1983-12       Impact factor: 1.890

5.  Comparison between various strategies for the disease-gene mapping using linkage disequilibrium analyses: studies on adenine phosphoribosyltransferase deficiency used as an example.

Authors:  Shin-Ichi Kuno; Atsuo Taniguchi; Akira Saito; Sanae Tsuchida-Otsuka; Naoyuki Kamatani
Journal:  J Hum Genet       Date:  2004-07-28       Impact factor: 3.172

Review 6.  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

7.  Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child.

Authors:  T M Barratt; H A Simmonds; J S Cameron; C F Potter; G A Rose; D G Arkell; D I Williams
Journal:  Arch Dis Child       Date:  1979-01       Impact factor: 3.791

8.  Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.

Authors:  S Fujimori; I Akaoka; K Sakamoto; H Yamanaka; K Nishioka; N Kamatani
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

9.  Characterization of the biochemical basis of a complete deficiency of the adenine phosphoribosyl transferase (APRT).

Authors:  W Doppler; M Hirsch-Kauffmann; F Schabel; M Schweiger
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

10.  Renal failure due to 2,8-dihydroxyadenine urolithiasis.

Authors:  M C Greenwood; M J Dillon; H A Simmonds; T M Barratt; J R Pincott; C Metreweli
Journal:  Eur J Pediatr       Date:  1982-07       Impact factor: 3.183
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