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A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearing KCNJ10 truncating mutations.
Suzumoto Y, Columbano V, Gervasi L, Giunta R, Mattina T, Trimarchi G, Capolongo G, Simeoni M, Perna AF, Zacchia M, Toriello G, Pollastro RM, Rapisarda F, Capasso G, Trepiccione F. Suzumoto Y, et al. Among authors: columbano v. Intractable Rare Dis Res. 2021 May;10(2):95-101. doi: 10.5582/irdr.2020.03158. Intractable Rare Dis Res. 2021. PMID: 33996354 Free PMC article.
Looking beyond Entecavir to discover Gitelman Syndrome in a 50 year-old man.
Simeoni M, Columbano V, Suzumoto Y, Salviano L, Capolongo G, Zacchia M, Del Vecchio Blanco F, Perna AF, Nigro V, Capasso G, Trepiccione F. Simeoni M, et al. Among authors: columbano v. QJM. 2020 Oct 1;113(10):739-740. doi: 10.1093/qjmed/hcaa104. QJM. 2020. PMID: 32221616 No abstract available.
Positron Emission Tomography Can Support the Diagnosis of Dialysis-Related Amyloidosis.
Santagati G, Cataldo E, Columbano V, Chatrenet A, Penna D, Pelosi E, Hachemi M, Gendrot L, Nielsen L, Cinquantini F, Saulnier P, Arena V, Boursot C, Piccoli GB. Santagati G, et al. Among authors: columbano v. J Clin Med. 2019 Sep 19;8(9):1494. doi: 10.3390/jcm8091494. J Clin Med. 2019. PMID: 31546847 Free PMC article.