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Pompe disease: pathogenesis, molecular genetics and diagnosis.
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.
Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case.
Zizzo C, Ruggeri I, Colomba P, Argano C, Francofonte D, Zora M, Marsana EM, Duro G, Corrao S.
Zizzo C, et al. Among authors: marsana em.
Biology (Basel). 2022 Jun 15;11(6):914. doi: 10.3390/biology11060914.
Biology (Basel). 2022.
PMID: 35741435
Free PMC article.
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Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients.
Duro G, Anania M, Zizzo C, Francofonte D, Giacalone I, D'Errico A, Marsana EM, Colomba P.
Duro G, et al. Among authors: marsana em.
Int J Mol Sci. 2024 May 9;25(10):5158. doi: 10.3390/ijms25105158.
Int J Mol Sci. 2024.
PMID: 38791200
Free PMC article.
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Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion.
Marotto D, Moschetti M, Lo Curto A, Spezzigu AM, Giacomarra M, Marsana EM, Zizzo C, Duro G, Colomba P.
Marotto D, et al. Among authors: marsana em.
Int J Mol Sci. 2023 Nov 3;24(21):15924. doi: 10.3390/ijms242115924.
Int J Mol Sci. 2023.
PMID: 37958907
Free PMC article.
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