Literature DB >> 3087666

Inherited enzyme deficiencies and immunodeficiency: adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP) deficiencies.

R Hirschhorn.   

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Year:  1986        PMID: 3087666     DOI: 10.1016/0090-1229(86)90081-4

Source DB:  PubMed          Journal:  Clin Immunol Immunopathol        ISSN: 0090-1229


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  10 in total

1.  Effect of red cell transfusions on clinical, immunological and biochemical parameters of a child with adenosine deaminase deficiency.

Authors:  C Bory; R Boulieu; G Souillet; C Chantin; M O Rolland; M Mathieu
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

Review 2.  Genetics of human X-linked immunodeficiency diseases.

Authors:  R W Hendriks; R K Schuurman
Journal:  Clin Exp Immunol       Date:  1991-08       Impact factor: 4.330

3.  Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus.

Authors:  S Tzall; A Ellenbogen; F Eng; R Hirschhorn
Journal:  Am J Hum Genet       Date:  1989-06       Impact factor: 11.025

4.  Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.

Authors:  R Hirschhorn; S Tzall; A Ellenbogen; S H Orkin
Journal:  J Clin Invest       Date:  1989-02       Impact factor: 14.808

5.  Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).

Authors:  R Hirschhorn; V Chakravarti; J Puck; S D Douglas
Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025

6.  Hot spot mutations in adenosine deaminase deficiency.

Authors:  R Hirschhorn; S Tzall; A Ellenbogen
Journal:  Proc Natl Acad Sci U S A       Date:  1990-08       Impact factor: 11.205

7.  Combined familial adenosine deaminase and purine nucleoside phosphorylase deficiencies.

Authors:  A Shanon; S Levin; F Holtzman; F Brock-Sinai; A Abu-Said
Journal:  Arch Dis Child       Date:  1988-08       Impact factor: 3.791

8.  Insulin-dependent diabetes mellitus and severe atopic dermatitis in a child with adenosine deaminase deficiency.

Authors:  L D Notarangelo; G Stoppoloni; R Toraldo; E Mazzolari; A Coletta; P Airò; C Bordignon; A G Ugazio
Journal:  Eur J Pediatr       Date:  1992-11       Impact factor: 3.183

9.  Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.

Authors:  F X Arredondo-Vega; J Kurtzberg; S Chaffee; I Santisteban; E Reisner; M S Povey; M S Hershfield
Journal:  J Clin Invest       Date:  1990-08       Impact factor: 14.808

10.  Chondroosseous dysplasia in severe combined immunodeficiency due to adenosine deaminase deficiency (chondroosseous dysplasia in ADA deficiency SCID).

Authors:  V S Chakravarti; P Borns; J Lobell; S D Douglas
Journal:  Pediatr Radiol       Date:  1991
  10 in total

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