Literature DB >> 731641

Adenine phosphoribosyltransferase deficiency presenting with supposed 'uric acid' stones: pitfalls of diagnosis.

H A Simmonds, C F Potter, A Sahota, J S Cameron, G A Rose, T M Barratt, D I Williams, D G Arkell, K J Van Acker.   

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Year:  1978        PMID： 731641      PMCID： PMC1436179          DOI： 10.1177/014107687807101104

Source DB:  PubMed          Journal:  J R Soc Med        ISSN： 0141-0768            Impact factor:   18.000


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  7 in total

1.  The identification of 2,8-dihydroxyadenine, a new component of urinary stones.

Authors:  H A Simmonds; K J Van Acker; J S Cameron; W Snedden
Journal:  Biochem J       Date:  1976-08-01       Impact factor: 3.857

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

Authors:  H Debray; P Cartier; A Temstet; J Cendron
Journal:  Pediatr Res       Date:  1976-08       Impact factor: 3.756

3.  A quantitative approach to the analysis of renal calculi.

Authors:  E J Westbury; P Omenogor
Journal:  J Med Lab Technol       Date:  1970-10

4.  Urinary excretion of purines, pyrimidines and pyrazolopyrimidines in patients treated with allopurinol or oxipurinol.

Authors:  H A Simmonds
Journal:  Clin Chim Acta       Date:  1969-02       Impact factor: 3.786

5.  [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

6.  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

7.  The thermogravimetric analysis of renal stones (in clinical practice).

Authors:  G A Rose; C Woodfine
Journal:  Br J Urol       Date:  1976-12
  7 in total
  2 in total

1.  Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.

Authors:  Margret Thorsteinsdottir; Unnur A Thorsteinsdottir; Finnur F Eiriksson; Hrafnhildur L Runolfsdottir; Inger M Sch Agustsdottir; Steinunn Oddsdottir; Baldur B Sigurdsson; Hordur K Hardarson; Nilesh R Kamble; Snorri Th Sigurdsson; Vidar O Edvardsson; Runolfur Palsson
Journal:  J Chromatogr B Analyt Technol Biomed Life Sci       Date:  2016-09-14       Impact factor: 3.205

2.  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
  2 in total

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