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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

Papers overview

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2007
2007
Abstract: PNP deficiency is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency… 
1998
1998
ABSTRACT The clinical presentations of adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency are widely… 
1996
1996
A 5-year-old boy with spastic quadriplegia, T cell immunodeficiency, hypouricemia and immune cytopenias from age 8 months, was… 
1979
1979
Absence of purine nucleoside phosphorylase (NP) is associated with severe T cell immune deficiency and normal B cell function… 
1978
1978
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
Immune function in two brothers with a deficiency of purine nucleoside phosphorylase was evaluated in vivo and in vitro. Both…