Usefulness of Intact Erythrocyte Studies in the Diagnosis of Inherited Purine and Pyrimidine Defects
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Publisher
Springer US
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http://link.springer.com/content/pdf/10.1007/978-1-4684-5104-7_16.pdf
Reference7 articles.
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3. Emmerson BT, Thompson L. The spectrum of hypoxanthine-guanine phosphoribosuyltransferase deficiency. Q J Med 1973; 42: 423–440
4. Page T, Bakay B, Nissinen E, Nyhan WL. Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of phenotype with enzyme activity. J Inher Metab Dis 1981; 4: 203–206
5. Fairbanks LD, Goday A, Morris GS, Brolsma MFJ, Simmonds HA, Gibson T. Rapid determination of enzyme activity in intact and lysed cells using HPLC with and without radiolabelled substrates. J Chromatog 1983; 276: 427–432
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