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[Purine nucleoside phosphorylase (PNP) deficiency].
Nihon rinsho. Japanese journal of clinical medicine, 1997The 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.
openaire +1 more source
International Journal of Biological Macromolecules, 2017
Z. Štefanić +4 more
semanticscholar +1 more source
Z. Štefanić +4 more
semanticscholar +1 more source
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2016
P. Giuliani +9 more
semanticscholar +1 more source
P. Giuliani +9 more
semanticscholar +1 more source
Role of glycogen phosphorylase in liver glycogen metabolism
Molecular Aspects of Medicine, 2015Loranne Agius
exaly

