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

Related topics

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23 relations
Abnormal behaviorAtaxiaAutoimmune hemolytic anemiaAutoimmune neutropenia
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Broader (1)

Purine-Nucleoside Phosphorylase

Related mentions per year

Related mentions per year

1936-2019
19401960198020002020
Purine-nucleoside phosphorylase deficiency
Pneumonia
Lymphoma
Urinary tract infection
Abnormal behavior
Autosomal recessive inheritance

Papers overview

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2013
2013
Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency.
Purine nucleoside phosphorylase (PNP) deficiency is an autosomal recessive genetic disorder of the purine salvage pathway… (More)
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2011
2011
Effects of purine nucleoside phosphorylase deficiency on thymocyte development.
BACKGROUND Inherited or acquired defects in purine nucleoside phosphorylase (PNP) impair purine metabolism, as well as the… (More)
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2008
2008
Lentivirus gene therapy for purine nucleoside phosphorylase deficiency.
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 Deficiency Associated with a Dysplastic Marrow Morphology
Purine nucleoside phosphorylase (PNP) deficiency is an autosomal recessive metabolic disorder characterized by severe combined… (More)
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1997
1997
Mutations in purine nucleoside phosphorylase deficiency.
Purine nucleoside phosphorylase deficiency is an inherited disease of purine metabolism characterized clinically as combined… (More)
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1995
1995
Stroke in purine nucleoside phosphorylase deficiency.
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
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… (More)
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1978
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… (More)
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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… (More)
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1977
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… (More)
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