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12 in total

1. Another family with purine neucleoside phosphorylase deficiency.

Authors: P Lucarelli; R M Corbo; R Scacchi; R Palmarino; E Carapella-De Luca
Journal: Hum Genet Date: 1979 Impact factor: 4.132

2. Point mutations at the purine nucleoside phosphorylase locus impair thymocyte differentiation in the mouse.

Authors: F F Snyder; J P Jenuth; E R Mably; R K Mangat
Journal: Proc Natl Acad Sci U S A Date: 1997-03-18 Impact factor: 11.205

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
Journal: Clin Diagn Lab Immunol Date: 1998-05

4. Prenatal exclusion of purine nucleoside phosphorylase deficiency.

Authors: E Carapella De Luca; M Stegagno; C Dionisi Vici; R Paesano; L D Fairbanks; G S Morris; H A Simmonds
Journal: Eur J Pediatr Date: 1986-04 Impact factor: 3.183

5. Erythrocyte metabolism in purine nucleoside phosphorylase deficiency after enzyme replacement therapy by infusion of erythrocytes.

Authors: G E Staal; J W Stoop; B J Zegers; L H Siegenbeek van Heukelom; M J van der Vlist; S K Wadman; D W Martin
Journal: J Clin Invest Date: 1980-01 Impact factor: 14.808

10. B cell hyperactivity and abnormalities in T cell markers and immunoregulatory function in a patient with nucleoside phosphorylase deficiency.

Authors: J M Zabay; E G De La Concha; C Ludeña; C Lozano; D Pascual-Salcedo; A Bootello; P Gonzalezporqué
Journal: Clin Exp Immunol Date: 1982-12 Impact factor: 4.330

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

1. Another family with purine neucleoside phosphorylase deficiency.

2. Point mutations at the purine nucleoside phosphorylase locus impair thymocyte differentiation in the mouse.

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

4. Prenatal exclusion of purine nucleoside phosphorylase deficiency.

5. Erythrocyte metabolism in purine nucleoside phosphorylase deficiency after enzyme replacement therapy by infusion of erythrocytes.

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

7. Purine enzymes in patients with rheumatoid arthritis treated with methotrexate.

8. Human purine nucleoside phosphorylase cDNA sequence and genomic clone characterization.

9. Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency.

10. B cell hyperactivity and abnormalities in T cell markers and immunoregulatory function in a patient with nucleoside phosphorylase deficiency.