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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: funghini s. 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
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: funghini s. 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
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. Among authors: funghini s. 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.
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: funghini 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
43 results