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Page 1
Pompe disease: pathogenesis, molecular genetics and diagnosis.
Taverna S, Cammarata G, Colomba P, Sciarrino S, Zizzo C, Francofonte D, Zora M, Scalia S, Brando C, Curto AL, Marsana EM, Olivieri R, Vitale S, Duro G. Taverna S, et al. Among authors: scalia s. Aging (Albany NY). 2020 Aug 3;12(15):15856-15874. doi: 10.18632/aging.103794. Epub 2020 Aug 3. Aging (Albany NY). 2020. PMID: 32745073 Free PMC article. Review.
An update on gene therapy for lysosomal storage disorders.
Nagree MS, Scalia S, McKillop WM, Medin JA. Nagree MS, et al. Among authors: scalia s. Expert Opin Biol Ther. 2019 Jul;19(7):655-670. doi: 10.1080/14712598.2019.1607837. Epub 2019 May 6. Expert Opin Biol Ther. 2019. PMID: 31056978 Review.
Impaired respiratory function reduces haemoglobin oxygen affinity in COVID-19.
Bergamaschi G, Barteselli C, Del Rio V, Borrelli de Andreis F, Pellegrino I, Mengoli C, Miceli E, Colaneri M, Zuccaro V, Di Stefano M, Bruno R, Di Sabatino A; Internal Medicine Covid-19 Collaborators. Bergamaschi G, et al. Br J Haematol. 2023 Mar;200(5):e44-e47. doi: 10.1111/bjh.18620. Epub 2022 Dec 26. Br J Haematol. 2023. PMID: 36572525 Free PMC article. No abstract available.
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro G, Zizzo C, Cammarata G, Burlina A, Burlina A, Polo G, Scalia S, Oliveri R, Sciarrino S, Francofonte D, Alessandro R, Pisani A, Palladino G, Napoletano R, Tenuta M, Masarone D, Limongelli G, Riccio E, Frustaci A, Chimenti C, Ferri C, Pieruzzi F, Pieroni M, Spada M, Castana C, Caserta M, Monte I, Rodolico MS, Feriozzi S, Battaglia Y, Amico L, Losi MA, Autore C, Lombardi M, Zoccali C, Testa A, Postorino M, Mignani R, Zachara E, Giordano A, Colomba P. Duro G, et al. Among authors: scalia s. Int J Mol Sci. 2018 Nov 23;19(12):3726. doi: 10.3390/ijms19123726. Int J Mol Sci. 2018. PMID: 30477121 Free PMC article.
A pilot study of circulating microRNAs as potential biomarkers of Fabry disease.
Cammarata G, Scalia S, Colomba P, Zizzo C, Pisani A, Riccio E, Montalbano M, Alessandro R, Giordano A, Duro G. Cammarata G, et al. Among authors: scalia s. Oncotarget. 2018 Jun 8;9(44):27333-27345. doi: 10.18632/oncotarget.25542. eCollection 2018 Jun 8. Oncotarget. 2018. PMID: 29937989 Free PMC article.
De novo mutation in a male patient with Fabry disease: a case report.
Iemolo F, Pizzo F, Albeggiani G, Zizzo C, Colomba P, Scalia S, Bartolotta C, Duro G. Iemolo F, et al. Among authors: scalia s. BMC Res Notes. 2014 Jan 7;7:11. doi: 10.1186/1756-0500-7-11. BMC Res Notes. 2014. PMID: 24398019 Free PMC article.