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Page 1
Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators.
Int J Mol Sci. 2021 Jan 12;22(2):675. doi: 10.3390/ijms22020675.
Int J Mol Sci. 2021.
PMID: 33445488
Free PMC article.
Review.
Givosiran in acute intermittent porphyria: A personalized medicine approach.
Poli A, Schmitt C, Moulouel B, Mirmiran A, Talbi N, Rivière S, Cerutti D, Bouchoule I, Faivre A, Grobost V, Douillard C, Duchêne F, Fiorentino V, Dupré T, Manceau H, Peoc'h K, Puy H, Lefebvre T, Gouya L.
Poli A, et al. Among authors: fiorentino v.
Mol Genet Metab. 2022 Mar;135(3):206-214. doi: 10.1016/j.ymgme.2022.01.002. Epub 2022 Jan 10.
Mol Genet Metab. 2022.
PMID: 35058124
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Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.
Ventura P, Brancaleoni V, Di Pierro E, Graziadei G, Macrì A, Carmine Guida C, Nicolli A, Rossi MT, Granata F, Fiorentino V, Fustinoni S, Sala R, Pinton PC, Trevisan A, Marchini S, Cuoghi C, Marcacci M, Corradini E, Sorge F, Aurizi C, Savino MG, Cappellini MD, Pietrangelo A.
Ventura P, et al. Among authors: fiorentino v.
Eur J Dermatol. 2020 Oct 1;30(5):532-540. doi: 10.1684/ejd.2020.3880.
Eur J Dermatol. 2020.
PMID: 33021473
Free article.
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The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1.
Fiorentino V, Brancaleoni V, Granata F, Graziadei G, Di Pierro E.
Fiorentino V, et al.
Blood Cells Mol Dis. 2016 Oct;61:48-53. doi: 10.1016/j.bcmd.2016.08.002. Epub 2016 Aug 17.
Blood Cells Mol Dis. 2016.
PMID: 27667166
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A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.
Terrone G, Cappuccio G, Genesio R, Esposito A, Fiorentino V, Riccitelli M, Nitsch L, Brunetti-Pierri N, Del Giudice E.
Terrone G, et al. Among authors: fiorentino v.
Am J Med Genet A. 2014 Jan;164A(1):190-3. doi: 10.1002/ajmg.a.36200. Epub 2013 Nov 15.
Am J Med Genet A. 2014.
PMID: 24243641
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