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Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.
Catarzi S, Caciotti A, Thusberg J, Tonin R, Malvagia S, la Marca G, Pasquini E, Cavicchi C, Ferri L, Donati MA, Baronio F, Guerrini R, Mooney SD, Morrone A. Catarzi S, et al. Among authors: pasquini e. ScientificWorldJournal. 2013 Oct 31;2013:625824. doi: 10.1155/2013/625824. eCollection 2013. ScientificWorldJournal. 2013. PMID: 24294134 Free PMC article.
Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry.
la Marca G, Malvagia S, Pasquini E, Innocenti M, Donati MA, Zammarchi E. la Marca G, et al. Among authors: pasquini e. Clin Chem. 2007 Jul;53(7):1364-9. doi: 10.1373/clinchem.2007.087775. Epub 2007 May 17. Clin Chem. 2007. PMID: 17510301
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.
Tonin R, Caciotti A, Funghini S, Pasquini E, Mooney SD, Cai B, Proncopio E, Donati MA, Baronio F, Bettocchi I, Cassio A, Biasucci G, Bordugo A, la Marca G, Guerrini R, Morrone A. Tonin R, et al. Among authors: pasquini e. BBA Clin. 2016 Mar 10;5:114-9. doi: 10.1016/j.bbacli.2016.03.004. eCollection 2016 Jun. BBA Clin. 2016. PMID: 27051597 Free PMC article.
295 results