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Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry.
la Marca G, Giocaliere E, Malvagia S, Villanelli F, Funghini S, Ombrone D, Della Bona M, Forni G, Canessa C, Ricci S, Romano F, Guerrini R, Resti M, Azzari C. la Marca G, et al. Among authors: della bona m. Clin Chem Lab Med. 2016 Apr;54(4):627-32. doi: 10.1515/cclm-2015-0436. Clin Chem Lab Med. 2016. PMID: 26466166
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: della bona ml. 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
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients.
Malvagia S, Ferri L, Della Bona M, Borsini W, Cirami CL, Dervishi E, Feriozzi S, Gasperini S, Motta S, Mignani R, Trezzi B, Pieruzzi F, Morrone A, Daniotti M, Donati MA, la Marca G. Malvagia S, et al. Among authors: della bona m. Clin Chem Lab Med. 2021 Apr 30;59(9):1516-1526. doi: 10.1515/cclm-2021-0316. Print 2021 Aug 26. Clin Chem Lab Med. 2021. PMID: 33915609 Free article.
The successful inclusion of ADA SCID in Tuscany expanded newborn screening program.
Malvagia S, Funghini S, Della Bona M, Ombrone D, Mura M, Damiano R, Ricci S, Cortimiglia M, Azzari C, la Marca G. Malvagia S, et al. Among authors: della bona m. Clin Chem Lab Med. 2021 May 6;59(10):e401-e404. doi: 10.1515/cclm-2021-0307. Print 2021 Sep 27. Clin Chem Lab Med. 2021. PMID: 33951760 No abstract available.
Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.
la Marca G, Canessa C, Giocaliere E, Romano F, Duse M, Malvagia S, Lippi F, Funghini S, Bianchi L, Della Bona ML, Valleriani C, Ombrone D, Moriondo M, Villanelli F, Speckmann C, Adams S, Gaspar BH, Hershfield M, Santisteban I, Fairbanks L, Ragusa G, Resti M, de Martino M, Guerrini R, Azzari C. la Marca G, et al. Among authors: della bona ml. J Allergy Clin Immunol. 2013 Jun;131(6):1604-10. doi: 10.1016/j.jaci.2012.08.054. Epub 2012 Dec 30. J Allergy Clin Immunol. 2013. PMID: 23280131
The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry.
la Marca G, Giocaliere E, Malvagia S, Funghini S, Ombrone D, Della Bona ML, Canessa C, Lippi F, Romano F, Guerrini R, Resti M, Azzari C. la Marca G, et al. Among authors: della bona ml. J Pharm Biomed Anal. 2014 Jan;88:201-6. doi: 10.1016/j.jpba.2013.08.044. Epub 2013 Sep 8. J Pharm Biomed Anal. 2014. PMID: 24076575
32 results