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Page 1
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.
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.
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.
Seeking Amyloidosis Very Early: Free light Chain Differentials and IGLV Gene Use as Screening Variables for Light-chain Amyloidosis in λ Monoclonal Gammopathies.
Zhou P, Mansukhani MM, Yeh R, Lu J, Xia H, Koganti L, Pang J, Toskic D, Scalia S, Ma X, Lyons NC, Fogaren T, Varga C, Comenzo RL. Zhou P, et al. Among authors: scalia s. Br J Cancer Res. 2024 Jun;7(2):681-686. doi: 10.31488/bjcr.193. Epub 2024 May 23. Br J Cancer Res. 2024. PMID: 39790465 Free PMC article.
Case Report: Avoiding misdiagnosis in amyloidosis-navigating transthyretin genopositivity and monoclonal gammopathy in a patient with advanced heart failure and spinal stenosis.
Wu X, Toskic D, Zhou P, Scalia S, Ma X, Bhatt P, Fogaren T, Pilichowska M, Arkun K, Patel J, Riesenburger RI, Larson DP, Comenzo RL. Wu X, et al. Among authors: scalia s. Front Cardiovasc Med. 2024 Dec 16;11:1479676. doi: 10.3389/fcvm.2024.1479676. eCollection 2024. Front Cardiovasc Med. 2024. PMID: 39736876 Free PMC article.
148 results