Literature DB >> 112034

Another family with purine neucleoside phosphorylase deficiency.

P Lucarelli, R M Corbo, R Scacchi, R Palmarino, E Carapella-De Luca.   

Abstract

A brief genetic report is given on a family with a child affected by nucleoside phosphorylase deficiency. Our observations confirm the genetic heterogeneity of this enzyme deficiency which is inherited as a mendelian autosomal trait.

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Year:  1979        PMID： 112034     DOI： 10.1007/bf00295592

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  6 in total

1.  A patient with nucleoside phosphorylase deficiency, selective t-cell deficiency, and autoimmune hemolytic anemia.

Authors:  E Carapella-de Luca; F Aiuti; P Lucarelli; L Bruni; C D Baroni; C Imperato; D Roos; A Astaldi
Journal:  J Pediatr       Date:  1978-12       Impact factor: 4.406

2.  Inherited variants of human nucleoside phosphorylase.

Authors:  Y H Edwards; D A Hopkinson; H Harris
Journal:  Ann Hum Genet       Date:  1971-05       Impact factor: 1.670

3.  Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency.

Authors:  J W Stoop; B J Zegers; G F Hendrickx; L H van Heukelom; G E Staal; P K de Bree; S K Wadman; R E Ballieux
Journal:  N Engl J Med       Date:  1977-03-24       Impact factor: 91.245

4.  Purine nucleoside phosphorylase deficiency. Evidence for molecular heterogeneity in two families with enzyme-deficient members.

Authors:  W R Osborne; S H Chen; E R Giblett; W D Biggar; A A Ammann; C R Scott
Journal:  J Clin Invest       Date:  1977-09       Impact factor: 14.808

5.  Further data on the adenosine deaminase (ADA) polymprphism and a report of a new phenotype.

Authors:  D A Hopkinson; P J Cook; H Harris
Journal:  Ann Hum Genet       Date:  1969-05       Impact factor: 1.670

6.  Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity.

Authors:  E R Giblett; A J Ammann; D W Wara; R Sandman; L K Diamond
Journal:  Lancet       Date:  1975-05-03       Impact factor: 79.321
  6 in total
  1 in total

1.  Evolution of chromosomal abnormalities in sequential cytogenetic studies of ataxia telangiectasia.

Authors:  A Al Saadi; M Palutke; G K Kumar
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132
  1 in total

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