Literature DB >> 7311997

Urolithiasis due to 2,8-dihydroxyadenine in an adult.

M H Gault, H A Simmonds, W Snedden, D Dow, D N Churchill, H Penney.   

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Year:  1981        PMID： 7311997     DOI： 10.1056/NEJM198112243052608

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  5 in total

1.  Adenine phosphoribosyltransferase deficiency: a case diagnosed by GC-MS identification of 2,8-dihydroxyadenine in urinary crystals.

Authors:  E Christensen; N J Brandt; T Laxdal
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

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.  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

4.  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

5.  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
  5 in total

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