Literature DB >> 7544949

Normal uric acid concentrations in a purine nucleoside phosphorylase (PNP) deficient child presenting with severe chicken pox, possible immunodeficiency and developmental delay.

R J Hallett1, S M Cronin, G Morgan, J A Duley, L D Fairbanks, H A Simmonds.   

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Year:  1994        PMID： 7544949     DOI： 10.1007/978-1-4615-2584-4_84

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  4 in total

Review 1.  When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications.

Authors:  H A Simmonds; J A Duley; L D Fairbanks; M B McBride
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

Review 2.  Primary immunodeficiency diseases associated with neurologic manifestations.

Authors:  Soodabeh Fazeli Dehkordy; Asghar Aghamohammadi; Hans D Ochs; Nima Rezaei
Journal:  J Clin Immunol       Date:  2011-10-26       Impact factor: 8.542

3.  Assessment of the red cell proteome of young patients with unexplained hemolytic anemia by two-dimensional differential in-gel electrophoresis (DIGE).

Authors:  Katharina von Löhneysen; Thomas M Scott; Katrin Soldau; Xiuling Xu; Jeffrey S Friedman
Journal:  PLoS One       Date:  2012-04-03       Impact factor: 3.240

4.  Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients.

Authors:  Abdullah Alangari; Abdullah Al-Harbi; Abdulaziz Al-Ghonaium; Ines Santisteban; Michael Hershfield
Journal:  Ann Saudi Med       Date:  2009 Jul-Aug       Impact factor: 1.526
  4 in total

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