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23 results

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Page 1
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: ombrone d. 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: ombrone d. 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
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: ombrone d. 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
Screening of lysosomal storage disorders: application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis I.
Ombrone D, Malvagia S, Funghini S, Giocaliere E, Della Bona ML, Forni G, De Luca A, Villanelli F, Casetta B, Guerrini R, la Marca G. Ombrone D, et al. Eur J Mass Spectrom (Chichester). 2013;19(6):497-503. doi: 10.1255/ejms.1257. Eur J Mass Spectrom (Chichester). 2013. PMID: 24378468 Clinical Trial.
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: ombrone d. Clin Chem Lab Med. 2016 Apr;54(4):627-32. doi: 10.1515/cclm-2015-0436. Clin Chem Lab Med. 2016. PMID: 26466166
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: ombrone d. 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.
23 results