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Page 1
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: rovelli v. Int J Neonatal Screen. 2022 Aug 9;8(3):47. doi: 10.3390/ijns8030047. Int J Neonatal Screen. 2022. PMID: 35997437 Free PMC article.
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.
Manti F, Nardecchia F, Banderali G, Burlina A, Carducci C, Carducci C, Donati MA, Gueraldi D, Paci S, Pochiero F, Porta F, Ortolano R, Rovelli V, Schiaffino MC, Spada M, Blau N, Leuzzi V. Manti F, et al. Among authors: rovelli v. Mol Genet Metab. 2020 Sep-Oct;131(1-2):155-162. doi: 10.1016/j.ymgme.2020.06.009. Epub 2020 Jun 24. Mol Genet Metab. 2020. PMID: 32651154
Novel mutations in two unrelated Italian patients with SSADH deficiency.
Balzarini M, Rovelli V, Paci S, Rigoldi M, Sanna G, Pillai S, Asunis M, Parini R, Ciminelli BM, Malaspina P. Balzarini M, et al. Among authors: rovelli v. Metab Brain Dis. 2019 Oct;34(5):1515-1518. doi: 10.1007/s11011-019-00453-w. Epub 2019 Jul 2. Metab Brain Dis. 2019. PMID: 31267348
Phenylketonuric diet negatively impacts on butyrate production.
Verduci E, Moretti F, Bassanini G, Banderali G, Rovelli V, Casiraghi MC, Morace G, Borgo F, Borghi E. Verduci E, et al. Among authors: rovelli v. Nutr Metab Cardiovasc Dis. 2018 Apr;28(4):385-392. doi: 10.1016/j.numecd.2018.01.004. Epub 2018 Jan 31. Nutr Metab Cardiovasc Dis. 2018. PMID: 29502926
PMM2-CDG and nephrotic syndrome: A case report.
Banderali G, Salvatici E, Rovelli V, Jaeken J. Banderali G, et al. Among authors: rovelli v. Clin Case Rep. 2022 Feb 10;10(2):e05347. doi: 10.1002/ccr3.5347. eCollection 2022 Feb. Clin Case Rep. 2022. PMID: 35154715 Free PMC article.
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