Literature DB >> 4749203

Adenine phosphoribosyltransferase deficiency in man. Report of a second family.

I H Fox, J C Meade, W N Kelley.   

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Year:  1973        PMID： 4749203     DOI： 10.1016/0002-9343(73)90183-6

Source DB:  PubMed          Journal:  Am J Med        ISSN： 0002-9343            Impact factor:   4.965


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  8 in total

Review 1.  Molecular variation in relation to purine metabolism.

Authors:  R W Watts
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

2.  Adenine phosphoribosyltransferase: a simple spectrophotometric assay and the incidence of mutation in the normal population.

Authors:  L A Johnson; R B Gordon; B T Emmerson
Journal:  Biochem Genet       Date:  1977-04       Impact factor: 1.890

3.  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

4.  Selection of human cells having two different types of mutations in individual cells (genetic/artificial mutants). Application to the diagnosis of the heterozygous state for a type of adenine phosphoribosyltransferase deficiency.

Authors:  N Kamatani; S Kuroshima; C Terai; K Kawai; K Mikanagi; K Nishioka
Journal:  Hum Genet       Date:  1987-06       Impact factor: 4.132

5.  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

6.  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

7.  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

8.  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
  8 in total

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