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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.
Review
2011
Review
2011
Purine Nucleoside Phosphorylase Deficiency: A Mutation Update
Purine nucleoside phosphorylase (PNPase) deficiency is an autosomal recessive disorder affecting purine degradation and salvage… 
Review
2009
Review
2009
Primary immunodeficiencies (PIDs) presenting with cytopenias.
  • L. Notarangelo
  • Hematology. American Society of Hematology…
  • 2009
  • Corpus ID: 20940259
Autoimmune manifestations are increasingly being recognized as a component of several forms of primary immunodeficiencies (PID… 
2004
2004
Purine Nucleoside Phosphorylase Deficiency Associated with a Dysplastic Marrow Morphology
Purine nucleoside phosphorylase (PNP) deficiency is an autosomal recessive metabolic disorder characterized by severe combined… 
1997
1997
Mutations in purine nucleoside phosphorylase deficiency
Purine nucleoside phosphorylase deficiency is an inherited disease of purine metabolism characterized clinically as combined… 
Highly Cited
1978
Highly Cited
1978
Deoxyguanosine triphosphate as a possible toxic metabolite in the immunodeficiency associated with purine nucleoside phosphorylase deficiency.
Purine nucleoside phosphorylase (PNP) deficiency is associated with a severe defect in thymus-derived (T)-lymphocyte 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
Methylthioadenosine nucleoside phosphorylase deficiency in methylthio-dependent cancer cells.
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
1976
Highly Cited
1976
Adenosine metabolism in phytohemagglutinin-stimulated human lymphocytes.
The association of a human genetic deficiency of adenosine deaminase activity with combined immunodeficiency prompted a study of… 
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