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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… Expand
National Institutes of Health

Papers overview

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Review
2005
Review
2005
  • W. Nyhan
  • Molecular genetics and metabolism
  • 2005
  • Corpus ID: 45413063
The disorders of purine and pyrimidine metabolism are unusual in their variety of clinical presentations and in the mechanisms by… Expand
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2004
2004
Purine nucleoside phosphorylase deficiency is a primary immunodeficiency syndrome characterized by the triad of recurrent… Expand
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Review
1991
Review
1991
Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disease accounting for approximately 4% of patients with… Expand
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1979
1979
: The biochemical features of two families with purine nucleoside phosphorylase deficiency are compared. Laboratory studies and… Expand
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Highly Cited
1978
Highly Cited
1978
Purine nucleoside phosphorylase (PNP) deficiency is associated with a severe defect in thymus-derived (T)-lymphocyte function… Expand
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1978
1978
1. We have compared urinary purine excretion by two different methods in three separate paediatric disorders of purine metabolism… Expand
  • figure 2
  • table 1
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Highly Cited
1978
Highly Cited
1978
  • J. Toohey
  • Biochemical and biophysical research…
  • 1978
  • Corpus ID: 28617163
Abstract The cleavage of the methylthio group from methylthioadenosine is shown to involve two enzymes, a nucleosidase which… Expand
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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… Expand
  • table 1
  • figure 1
  • figure 2
  • table 2
  • table 3
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Highly Cited
1977
Highly Cited
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… Expand
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Highly Cited
1977
Highly Cited
1977
Erythrocyte purine nucleoside phosphorylase from two brothers had 0.5% of normal activity. It differed from the normal enzyme by… Expand
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