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5. A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma. Al-Saud B; Al Alawi Z; Hussain FB; Hershfield M; Alkuraya FS; Al-Mayouf SM J Clin Immunol; 2020 Aug; 40(6):833-839. PubMed ID: 32514656 [TBL] [Abstract][Full Text] [Related]
6. 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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9. Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India. Madkaikar MR; Kulkarni S; Utage P; Fairbanks L; Ghosh K; Marinaki A; Desai M BMJ Case Rep; 2011 Dec; 2011():. PubMed ID: 22669887 [TBL] [Abstract][Full Text] [Related]
10. Purine Nucleoside Phosphorylase Deficiency in Two Unrelated Patients with Autoimmune Hemolytic Anemia and Eosinophilia: Two Novel Mutations. Alizadeh Z; Badalzadeh M; Heydarlou H; Shakerian L; Mahlooji Rad M; Zandieh F; Fazlollahi MR Arch Iran Med; 2023 Dec; 26(12):712-716. PubMed ID: 38431953 [TBL] [Abstract][Full Text] [Related]
11. TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice. Toro A; Grunebaum E J Clin Invest; 2006 Oct; 116(10):2717-26. PubMed ID: 16964310 [TBL] [Abstract][Full Text] [Related]
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