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2. Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots. la Marca G; Canessa C; Giocaliere E; Romano F; Malvagia S; Funghini S; Moriondo M; Valleriani C; Lippi F; Ombrone D; Della Bona ML; Speckmann C; Borte S; Brodszki N; Gennery AR; Weinacht K; Celmeli F; Pagel J; de Martino M; Guerrini R; Wittkowski H; Santisteban I; Bali P; Ikinciogullari A; Hershfield M; Notarangelo LD; Resti M; Azzari C J Allergy Clin Immunol; 2014 Jul; 134(1):155-9. PubMed ID: 24767876 [TBL] [Abstract][Full Text] [Related]
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4. Partial deficiency of purine nucleoside phosphorylase: studies of purine and pyrimidine metabolism. Edwards NL; Gelfand EW; Biggar D; Fox IH J Lab Clin Med; 1978 May; 91(5):736-49. PubMed ID: 417142 [No Abstract] [Full Text] [Related]
5. Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency. Stoop JW; Zegers BJ; Hendrickx GF; van Heukelom LH; Staal GE; de Bree PK; Wadman SK; Ballieux RE N Engl J Med; 1977 Mar; 296(12):651-5. PubMed ID: 402573 [TBL] [Abstract][Full Text] [Related]
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7. Proposed explanation for S-adenosylhomocysteine hydrolase deficiency in purine nucleoside phosphorylase and hypoxanthine-guanine phosphoribosyltransferase-deficient patients. Hershfield MS J Clin Invest; 1981 Mar; 67(3):696-701. PubMed ID: 6782120 [TBL] [Abstract][Full Text] [Related]
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