Purine nucleoside phosphorylase deficiency with fatal course in two sisters
โ Scribed by Caner Aytekin; Figen Dogu; Gonul Tanir; Deniz Guloglu; Ines Santisteban; Michael S. Hershfield; Aydan Ikinciogullari
- Book ID
- 106121863
- Publisher
- Springer
- Year
- 2009
- Tongue
- English
- Weight
- 97 KB
- Volume
- 169
- Category
- Article
- ISSN
- 0340-6997
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๐ SIMILAR VOLUMES
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
Fatal graft versus host disease (GVHD) developed in a child with purine nucleoside phosphorylase (PNP) deficiency following an unirradiated platelet transfusion. IV treatment with an anti-T-cell monoclonal antibody (CD7) led to a transient improvement of his GVHD (Grade IV) but did not prevent the f
## 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