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Article

[Purine nucleoside phosphorylase (PNP) deficiency].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1996

Sakiyama T

Abstract excerpt

The clinical manifestation, diagnosis, pathogenesis, pathophysiology and treatment of purine nucleoside phosphorylase (PNP) deficiency is overviewed. Among the severe combined immunodeficiency syndrome (SCID), PNP deficiency was 2ndly found as an autosomal recessively heritable purine metabolic disease. This disease is characterized by severe T-cell immunodysfunction accompanied by marked low level of uricemia...

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Identifiers

PMID: 8976114

Genes

PNP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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