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Purine-nucleoside phosphorylase deficiency

Known as: Nucleoside Phosphorylase Deficiency, PNP Deficiency, PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY 
PNP reversibly catalyzes the phosphorolysis of the purine nucleosides, (deoxy)inosine and (deoxy)guanosine, to their respective purine bases and the… 
National Institutes of Health

Related topics

Related topics

23 relations
Abnormal behaviorAtaxiaAutoimmune hemolytic anemiaAutoimmune neutropenia

Broader (1)

Purine-Nucleoside Phosphorylase

Papers overview

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Highly Cited
2012
Highly Cited
2012
Serum 25-dihydroxyvitamin D levels correlate with CD4(+)Foxp3(+) T-cell numbers in moderate/severe asthma.
2007
2007
Successful HLA‐identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency
Abstract: PNP deficiency is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency… 
1998
1998
Adenosine Deaminase Deficiency and Purine Nucleoside Phosphorylase Deficiency in Common Variable Immunodeficiency
ABSTRACT The clinical presentations of adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency are widely… 
1996
1996
Late diagnosis and correction of purine nucleoside phosphorylase deficiency with allogeneic bone marrow transplantation.
A 5-year-old boy with spastic quadriplegia, T cell immunodeficiency, hypouricemia and immune cytopenias from age 8 months, was… 
1982
1982
GTP depletion and other erythrocyte abnormalities in inherited PNP deficiency.
1979
1979
Purine nucleoside phosphorylase deficiency: a molecular model for selective loss of T cell function.
Absence of purine nucleoside phosphorylase (NP) is associated with severe T cell immune deficiency and normal B cell function… 
1978
1978
Purine metabolism and immunodeficiency: urinary purine excretion as a diagnostic screening test in adenosine deaminase and purine nucleoside phosphorylase deficiency.
1. We have compared urinary purine excretion by two different methods in three separate paediatric disorders of purine metabolism… 
Highly Cited
1978
Highly Cited
1978
Partial purine nucleoside phosphorylase deficiency. Studies of lymphocyte function.
Immune function in two brothers with a deficiency of purine nucleoside phosphorylase was evaluated in vivo and in vitro. Both… 
Highly Cited
1978
Highly Cited
1978
Deoxyguanosine toxicity on lymphoid cells as a cause for immunosuppression in purine nucleoside phosphorylase deficiency
Highly Cited
1976
Highly Cited
1976
Characterization of a cell culture model for the study of adenosine deaminase- and purine nucleoside phosphorylase-deficient immunologic disease
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