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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…
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National Institutes of Health
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Related topics
Related topics
23 relations
Abnormal behavior
Ataxia
Autoimmune hemolytic anemia
Autoimmune neutropenia
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Broader (1)
Purine-Nucleoside Phosphorylase
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
Serum 25-dihydroxyvitamin D levels correlate with CD4(+)Foxp3(+) T-cell numbers in moderate/severe asthma.
E. S. Chambers
,
A. Nanzer
,
+7 authors
C. Hawrylowicz
Journal of Allergy and Clinical Immunology
2012
Corpus ID: 205606482
2007
2007
Successful HLA‐identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency
S. Delicou
,
Vassiliki Kitra-Roussou
,
+6 authors
S. Grafakos
Pediatric Transplantation
2007
Corpus ID: 41709789
Abstract: PNP deficiency is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency…
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1998
1998
Adenosine Deaminase Deficiency and Purine Nucleoside Phosphorylase Deficiency in Common Variable Immunodeficiency
Amy Fleischman
,
M. Hershfield
,
+5 authors
J. Winkelstein
Clinical Diagnostic Laboratory Immunology
1998
Corpus ID: 8808463
ABSTRACT The clinical presentations of adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency are widely…
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1996
1996
Late diagnosis and correction of purine nucleoside phosphorylase deficiency with allogeneic bone marrow transplantation.
P. Carpenter
,
John B. Ziegler
,
M. Vowels
Bone Marrow Transplantation
1996
Corpus ID: 22268181
A 5-year-old boy with spastic quadriplegia, T cell immunodeficiency, hypouricemia and immune cytopenias from age 8 months, was…
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1982
1982
GTP depletion and other erythrocyte abnormalities in inherited PNP deficiency.
H. Simmonds
,
A. Watson
,
D. R. Webster
,
A. Sahota
,
D. Perrett
Biochemical Pharmacology
1982
Corpus ID: 28903360
1979
1979
Purine nucleoside phosphorylase deficiency: a molecular model for selective loss of T cell function.
U. Ochs
,
S. Chen
,
H. Ochs
,
W. Osborne
,
C. Scott
Journal of Immunology
1979
Corpus ID: 676643
Absence of purine nucleoside phosphorylase (NP) is associated with severe T cell immune deficiency and normal B cell function…
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1978
1978
Purine metabolism and immunodeficiency: urinary purine excretion as a diagnostic screening test in adenosine deaminase and purine nucleoside phosphorylase deficiency.
H. A. Simmonds
,
A. Sahota
,
Catherine F. Potter
,
J. Cameron
Clinical science and molecular medicine
1978
Corpus ID: 29804627
1. We have compared urinary purine excretion by two different methods in three separate paediatric disorders of purine metabolism…
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Highly Cited
1978
Highly Cited
1978
Partial purine nucleoside phosphorylase deficiency. Studies of lymphocyte function.
E. Gelfand
,
H. Dosch
,
W. Biggar
,
I. Fox
Journal of Clinical Investigation
1978
Corpus ID: 41285513
Immune function in two brothers with a deficiency of purine nucleoside phosphorylase was evaluated in vivo and in vitro. Both…
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Highly Cited
1978
Highly Cited
1978
Deoxyguanosine toxicity on lymphoid cells as a cause for immunosuppression in purine nucleoside phosphorylase deficiency
T. Chan
Cell
1978
Corpus ID: 2046774
Highly Cited
1976
Highly Cited
1976
Characterization of a cell culture model for the study of adenosine deaminase- and purine nucleoside phosphorylase-deficient immunologic disease
B. Ullman
,
A. Cohen
,
D. Martin
Cell
1976
Corpus ID: 33954867
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