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Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.
Rovelli V, Cefalo G, Ercoli V, Zuvadelli J, Olivia T, Graziani D, Luisella A, Bassi D, Re Dionigi A, Selmi R, Paci S, Salvatici E, Banderali G. Rovelli V, et al. Among authors: paci s. Endocrinol Diabetes Metab. 2023 Mar;6(2):e396. doi: 10.1002/edm2.396. Epub 2022 Dec 19. Endocrinol Diabetes Metab. 2023. PMID: 36537053 Free PMC article.
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: paci s. 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
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.
Rossi A, Hoogeveen IJ, Bastek VB, de Boer F, Montanari C, Meyer U, Maiorana A, Bordugo A, Dianin A, Campana C, Rigoldi M, Kishnani PS, Pendyal S, Strisciuglio P, Gasperini S, Parenti G, Parini R, Paci S, Melis D, Derks TGJ. Rossi A, et al. Among authors: paci s. J Inherit Metab Dis. 2020 Jul;43(4):770-777. doi: 10.1002/jimd.12224. Epub 2020 Feb 26. J Inherit Metab Dis. 2020. PMID: 32064649 Free PMC article.
Children with special health care needs attending emergency department in Italy: analysis of 3479 cases.
Cianci P, D'Apolito V, Moretti A, Barbagallo M, Paci S, Carbone MT, Lubrano R, Urbino A, Dionisi Vici C, Memo L, Zampino G, La Marca G, Villani A, Corsello G, Selicorni A; Italian Society of Pediatrics (SIP); Italian Society of Pediatric Genetic Diseases and Congenital Disabilities (SIMGePed) the Italian Society of Pediatric Emergency Medicine (SIMEUP); Italian Society For The Study Of Inborn Metabolic Disorders And Newborn Screening (SIMMENS) and Members of Italian Network. Cianci P, et al. Among authors: paci s. Ital J Pediatr. 2020 Nov 23;46(1):173. doi: 10.1186/s13052-020-00937-x. Ital J Pediatr. 2020. PMID: 33228805 Free PMC article.
62 results