Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

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

Related topics

Related topics

23 relations
Abnormal behaviorAtaxiaAutoimmune hemolytic anemiaAutoimmune neutropenia
Expand

Broader (1)

Purine-Nucleoside Phosphorylase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2005
Review
2005
Disorders of purine and pyrimidine metabolism.
  • 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
Is this relevant?
2004
2004
Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation.
Purine nucleoside phosphorylase deficiency is a primary immunodeficiency syndrome characterized by the triad of recurrent… Expand
Is this relevant?
Review
1991
Review
1991
Purine nucleoside phosphorylase deficiency.
Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disease accounting for approximately 4% of patients with… Expand
Is this relevant?
1979
1979
Purine Nucleoside Phosphorylase Deficiency
: The biochemical features of two families with purine nucleoside phosphorylase deficiency are compared. Laboratory studies and… Expand
Is this relevant?
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… Expand
  • figure 1
  • table I
  • figure 2
Is this relevant?
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… Expand
  • figure 2
  • table 1
Is this relevant?
Highly Cited
1978
Highly Cited
1978
Methylthioadenosine nucleoside phosphorylase deficiency in methylthio-dependent cancer cells.
  • 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
Is this relevant?
Highly Cited
1977
Highly Cited
1977
Lymphospecific toxicity in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency: possible role of nucleoside kinase(s).
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
Is this relevant?
Highly Cited
1977
Highly Cited
1977
Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency.
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
Is this relevant?
Highly Cited
1977
Highly Cited
1977
Purine nucleoside phosphorylase deficiency: altered kinetic properties of a mutant enzyme.
Erythrocyte purine nucleoside phosphorylase from two brothers had 0.5% of normal activity. It differed from the normal enzyme by… Expand
Is this relevant?
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License
ACCEPT & CONTINUE