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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1975-2016
051019752016

Papers overview

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2013
2013
Purine nucleoside phosphorylase (PNP) deficiency is an autosomal recessive genetic disorder of the purine salvage pathway… (More)
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2011
2011
BACKGROUND Inherited or acquired defects in purine nucleoside phosphorylase (PNP) impair purine metabolism, as well as the… (More)
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2008
2008
BACKGROUND Purine nucleoside phosphorylase (PNP) deficiency causes the accumulation of toxic purine metabolites and lethal T cell… (More)
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2004
2004
Purine nucleoside phosphorylase (PNP) deficiency is an autosomal recessive metabolic disorder characterized by severe combined… (More)
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1997
1997
Purine nucleoside phosphorylase deficiency is an inherited disease of purine metabolism characterized clinically as combined… (More)
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1995
1995
The first documented case of cerebrovascular disease occurring in a 13-year-old girl with purine nucleoside phosphorylase… (More)
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1978
1978
Immune function in two brothers with a deficiency of purine nucleoside phosphorylase was evaluated in vivo and in vitro. Both… (More)
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1978
1978
Purine nucleoside phosphorylase (PNP) deficiency is associated with a severe defect in thymus-derived (T)-lymphocyte function… (More)
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Highly Cited
1977
Highly Cited
1977
Inherited deficiencies of the enzymes adenosine deaminase (adenosine aminohydrolase; EC 3.5.4.4) and purine nucleoside… (More)
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1977
1977
We studied a 15-month-old girl who had normal T-cell and B-cell immunity at birth, after which a gradual decrease in T-cell… (More)
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