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Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs.
Framme JL, Lundqvist C, Lundell AC, van Schouwenburg PA, Lemarquis AL, Thörn K, Lindgren S, Gudmundsdottir J, Lundberg V, Degerman S, Zetterström RH, Borte S, Hammarström L, Telemo E, Hultdin M, van der Burg M, Fasth A, Oskarsdóttir S, Ekwall O. Framme JL, et al. Among authors: borte s. J Clin Immunol. 2022 Apr;42(3):618-633. doi: 10.1007/s10875-021-01201-5. Epub 2022 Jan 26. J Clin Immunol. 2022. PMID: 35080750 Free PMC article.
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. la Marca G, et al. Among authors: borte s. J Allergy Clin Immunol. 2014 Jul;134(1):155-9. doi: 10.1016/j.jaci.2014.01.040. Epub 2014 Apr 24. J Allergy Clin Immunol. 2014. PMID: 24767876
106 results