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Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.
Forte G, Buonadonna AL, Pantaleo A, Fasano C, Capodiferro D, Grossi V, Sanese P, Cariola F, De Marco K, Lepore Signorile M, Manghisi A, Guglielmi AF, Simonetti S, Laforgia N, Disciglio V, Simone C. Forte G, et al. Among authors: simonetti s. Int J Mol Sci. 2023 Dec 12;24(24):17388. doi: 10.3390/ijms242417388. Int J Mol Sci. 2023. PMID: 38139222 Free PMC article. Review.
Iodine Absorption in Celiac Children: A Longitudinal Pilot Study.
Delvecchio M, Bizzoco F, Lapolla R, Gentile A, Carrozza C, Barone M, Simonetti S, Giordano P, Dargenio VN, Cristofori F, Francavilla R. Delvecchio M, et al. Among authors: simonetti s. Nutrients. 2021 Mar 1;13(3):808. doi: 10.3390/nu13030808. Nutrients. 2021. PMID: 33804451 Free PMC article.
European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance.
Munck A, Berger DO, Southern KW, Carducci C, de Winter-de Groot KM, Gartner S, Kashirskaya N, Linnane B, Proesmans M, Sands D, Sommerburg O, Castellani C, Barben J; European CF Society Neonatal Screening Working Group (ECFS NSWG). Munck A, et al. J Cyst Fibros. 2023 May;22(3):484-495. doi: 10.1016/j.jcf.2022.09.012. Epub 2022 Nov 10. J Cyst Fibros. 2023. PMID: 36372700
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
Ruoppolo M, Malvagia S, Boenzi S, Carducci C, Dionisi-Vici C, Teofoli F, Burlina A, Angeloni A, Aronica T, Bordugo A, Bucci I, Camilot M, Carbone MT, Cardinali R, Carducci C, Cassanello M, Castana C, Cazzorla C, Ciatti R, Ferrari S, Frisso G, Funghini S, Furlan F, Gasperini S, Gragnaniello V, Guzzetti C, La Marca G, La Spina L, Lorè T, Meli C, Messina M, Morrone A, Nardecchia F, Ortolano R, Parenti G, Pavanello E, Pieragostino D, Pillai S, Porta F, Righetti F, Rossi C, Rovelli V, Salina A, Santoro L, Sauro P, Schiaffino MC, Simonetti S, Vincenzi M, Tarsi E, Uccheddu AP. Ruoppolo M, et al. Among authors: simonetti s. Int J Neonatal Screen. 2022 Aug 9;8(3):47. doi: 10.3390/ijns8030047. Int J Neonatal Screen. 2022. PMID: 35997437 Free PMC article.
Erratum for: Identification of Precise 3D CT Radiomics for Habitat Computation by Machine Learning in Cancer.
Prior O, Macarro C, Navarro V, Monreal C, Ligero M, Garcia-Ruiz A, Serna G, Simonetti S, Braña I, Vieito M, Escobar M, Capdevila J, Byrne AT, Dienstmann R, Toledo R, Nuciforo P, Garralda E, Grussu F, Bernatowicz K, Perez-Lopez R. Prior O, et al. Among authors: simonetti s. Radiol Artif Intell. 2024 May;6(3):e249001. doi: 10.1148/ryai.249001. Radiol Artif Intell. 2024. PMID: 38656233 No abstract available.
191 results