Literature DB >> 8099155

Adult presentation of adenosine deaminase deficiency.

C L Shovlin, J M Hughes, H A Simmonds, L Fairbanks, S Deacock, R Lechler, I Roberts, A D Webster.   

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Year:  1993        PMID： 8099155     DOI： 10.1016/0140-6736(93)90910-9

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  17 in total

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Review 2.  When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications.

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3.  Adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency in common variable immunodeficiency.

Authors:  A Fleischman; M S Hershfield; S Toutain; H M Lederman; K E Sullivan; M B Fasano; J Greene; J A Winkelstein
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Review 4.  Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency.

Authors:  M S Hershfield; F X Arredondo-Vega; I Santisteban
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

5.  Adenosine deaminase deficiency with altered biochemical parameters in two sisters with late-onset immunodeficiency.

Authors:  L D Fairbanks; C L Shovlin; A D Webster; J M Hughes; H A Simmonds
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Review 7.  Warts and all: human papillomavirus in primary immunodeficiencies.

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Review 8.  When and how does one search for inborn errors of purine and pyrimidine metabolism?

Authors:  H A Simmonds
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9.  Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.

Authors:  F X Arredondo-Vega; I Santisteban; S Kelly; C M Schlossman; D T Umetsu; M S Hershfield
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

10.  Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.

Authors:  R Hirschhorn; D R Yang; A Israni; M L Huie; D R Ownby
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025
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