Purine and pyrimidine metabolism was compared in erythrocytes from three patients from two families with purine nucleoside phosphorylase deficiency and T-cell immunodeficiency, one heterozygote subject for this enzyme deficiency, one patient with a complete deficiency of hypoxanthine-guanine phospho
A patient with purine nucleoside phosphorylase deficiency: Enzymological and metabolic aspects
โ Scribed by L.H.Siegenbeek Van Heukelom; J.W.N. Akkerman; G.E.J. Staal; C.H.M.M. De Bruyn; J.W. Stoop; B.J.M. Zegers; P.K. De Bree; S.K. Wadman
- Book ID
- 115821761
- Publisher
- Elsevier Science
- Year
- 1977
- Tongue
- English
- Weight
- 679 KB
- Volume
- 74
- Category
- Article
- ISSN
- 0009-8981
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## Abstract Cultured skin fibroblasts from a patient with Tโcell immune deficiency and an absence of purine nucleoside phosphorylase activity in red cells were assayed for their capacity to metabolize inosine and guanosine. The cultured fibroblasts were lacking activity of nucleoside phosphorylase