Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency
Author:
Funder
Ludwig-Maximilians-Universität München
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
https://link.springer.com/content/pdf/10.1007/s10875-021-01003-9.pdf
Reference13 articles.
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2. Iwahana H, Itakura M. Inherited disorders of uric acid metabolism--classification, enzymatic- and DNA-diagnosis. Nihon Rinsho. 1996;54:3303–8.
3. Rich KC, Majias E, Fox IH. Purine nucleoside phosphorylase deficiency: improved metabolic and immunologic function with erythrocyte transfusions. N Engl J Med. 1980;303:973–7. https://doi.org/10.1056/NEJM198010233031705.
4. Staal GE, Stoop JW, Zegers BJ, Siegenbeek van Heukelom LH, van der Vlist MJ, Wadman SK, et al. Erythrocyte metabolism in purine nucleoside phosphorylase deficiency after enzyme replacement therapy by infusion of erythrocytes. J Clin Invest. 1980;65:103–8. https://doi.org/10.1172/JCI109639.
5. la Marca G, Canessa C, Giocaliere E, Romano F, Malvagia S, Funghini S, et al. Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots. J Allergy Clin Immunol. 2014;134:155–9. https://doi.org/10.1016/j.jaci.2014.01.040.
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