Literature DB >> 6438186

Immune deficiency due to adenosine deaminase and purine nucleoside phosphorylase deficiency: a simple diagnostic test.

J L Maddocks, S A Al-Safi, G Wilson.   

Abstract

A simple method is described for diagnosing adenosine deaminase and purine nucleoside phosphorylase deficiency using urine. Cellulose thin layer chromatography of 1 microliter of urine from affected children was performed and deoxyadenosine and deoxyguanosine were easily detected by phosphorescence at the temperature of liquid nitrogen. This test is not expensive and can be done in any laboratory. It should be suitable for diagnostic screening in patients with immune deficiency.

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Year:  1984        PMID: 6438186      PMCID: PMC499004          DOI: 10.1136/jcp.37.11.1305

Source DB:  PubMed          Journal:  J Clin Pathol        ISSN: 0021-9746            Impact factor:   3.411


  11 in total

1.  ON EXCITATION OF BIOLOGICAL SUBSTANCES.

Authors:  R H Steele; A Szent-Györgyi
Journal:  Proc Natl Acad Sci U S A       Date:  1957-06-15       Impact factor: 11.205

2.  Separation and detection of picomole quantities of azathioprine metabolites.

Authors:  J L Maddocks; G S Davidson
Journal:  Br J Clin Pharmacol       Date:  1975-08       Impact factor: 4.335

3.  Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity.

Authors:  E R Giblett; J E Anderson; F Cohen; B Pollara; H J Meuwissen
Journal:  Lancet       Date:  1972-11-18       Impact factor: 79.321

4.  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

5.  Overproduction of adenine deoxynucleosides and deoxynucletides in adenosine deaminase deficiency with severe combined immunodeficiency disease.

Authors:  J Donofrio; M S Coleman; J J Hutton; A Daoud; B Lampkin; J Dyminski
Journal:  J Clin Invest       Date:  1978-10       Impact factor: 14.808

6.  Urinary excretion of purines, purine nucleosides, and pseudouridine in adenosine deaminase deficiency.

Authors:  G C Mills; R M Goldblum; K E Newkirk; F C Schmalstieg
Journal:  Biochem Med       Date:  1978-10

7.  Purine metabolism and immunodeficiency: urinary purine excretion as a diagnostic screening test in adenosine deaminase and purine nucleoside phosphorylase deficiency.

Authors:  H A Simmonds; A Sahota; C F Potter; J S Cameron
Journal:  Clin Sci Mol Med       Date:  1978-05

8.  Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase.

Authors:  A Cohen; D Doyle; D W Martin; A J Ammann
Journal:  N Engl J Med       Date:  1976-12-23       Impact factor: 91.245

9.  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

10.  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

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