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Organic acidurias in Egyptian children: The urge for high-risk screening.
Mehaney DA, Seliem ZS, Selim LA, Khalil MS, Abou-Youssef HS, Elsayed EM, Abdou DM, Rizzo C, Dioniasi-Vici C, Abdelazim AM, Elkady SH. Mehaney DA, et al. Among authors: rizzo c. Pediatr Int. 2023 Jan;65(1):e15469. doi: 10.1111/ped.15469. Pediatr Int. 2023. PMID: 36609685
A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy.
Rossi C, Cicalini I, Rizzo C, Zucchelli M, Consalvo A, Valentinuzzi S, Semeraro D, Gasparroni G, Brindisino P, Gazzolo D, Dionisi-Vici C, De Laurenzi V, Pieragostino D. Rossi C, et al. Among authors: rizzo c. Int J Environ Res Public Health. 2020 May 20;17(10):3601. doi: 10.3390/ijerph17103601. Int J Environ Res Public Health. 2020. PMID: 32443888 Free PMC article.
High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy.
Semeraro D, Verrocchio S, Di Dalmazi G, Rossi C, Pieragostino D, Cicalini I, Ferrante R, Di Michele S, Stuppia L, Rizzo C, Lepri FR, Novelli A, Dionisi-Vici C, De Laurenzi V, Bucci I. Semeraro D, et al. Among authors: rizzo c. Int J Environ Res Public Health. 2022 Jul 2;19(13):8141. doi: 10.3390/ijerph19138141. Int J Environ Res Public Health. 2022. PMID: 35805799 Free PMC article.
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA. Carrozzo R, et al. Among authors: rizzo c. Brain. 2007 Mar;130(Pt 3):862-74. doi: 10.1093/brain/awl389. Epub 2007 Feb 14. Brain. 2007. PMID: 17301081
907 results