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Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias.
Malvagia S, Haynes CA, Grisotto L, Ombrone D, Funghini S, Moretti E, McGreevy KS, Biggeri A, Guerrini R, Yahyaoui R, Garg U, Seeterlin M, Chace D, De Jesus VR, la Marca G. Malvagia S, et al. Among authors: funghini s. Clin Chim Acta. 2015 Oct 23;450:342-8. doi: 10.1016/j.cca.2015.09.012. Epub 2015 Sep 11. Clin Chim Acta. 2015. PMID: 26368264 Free PMC article.
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
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
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: funghini s. Clin Chem Lab Med. 2016 Apr;54(4):627-32. doi: 10.1515/cclm-2015-0436. Clin Chem Lab Med. 2016. PMID: 26466166
43 results