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Purine Nucleoside Phosphorylase Deficiency

✍ Scribed by Robert L. Wortmann; Catherine Andres; Janice Kaminska; Edwin Mejias; Erwin Gelfand; William Arnold; Kenneth Rich; Irving H. Fox

Publisher
John Wiley and Sons
Year
1979
Tongue
English
Weight
615 KB
Volume
22
Category
Article
ISSN
0004-3591

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✦ Synopsis

Abstract

The biochemical features of two families with purine nucleoside phosphorylase deficiency are compared. Laboratory studies and an evaluation of kinetic and physical properties of erythrocyte purine nucleoside phosphorylase give evidence that a) the degree of abnormality in uric acid and nucleoside concentrations in plasma and urine reflect the severity of the enzymatic deficiency and b) structural alterations of the mutant enzymes result from structural gene mutations and demonstrate genetic heterogeneity in the disease purine nucleoside phosphorylase deficiency.

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