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Page 1
Liver damage and sickle cell disease: genotype relationship.
Bortolotti M, D'Ambrosio R, Fraquelli M, Pedrotti P, Consonni D, Migone De Amicis M, Scaramellini N, Di Pierro E, Graziadei G. Bortolotti M, et al. Among authors: di pierro e. Ann Hematol. 2020 Sep;99(9):2065-2072. doi: 10.1007/s00277-020-04113-3. Epub 2020 Jun 22. Ann Hematol. 2020. PMID: 32572524
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Sheykhkarimli D, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP. van Loggerenberg W, et al. Among authors: di pierro e. Am J Hum Genet. 2023 Oct 5;110(10):1769-1786. doi: 10.1016/j.ajhg.2023.08.012. Epub 2023 Sep 19. Am J Hum Genet. 2023. PMID: 37729906 Free PMC article.
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP. van Loggerenberg W, et al. Among authors: di pierro e. bioRxiv [Preprint]. 2023 Feb 6:2023.02.06.527353. doi: 10.1101/2023.02.06.527353. bioRxiv. 2023. Update in: Am J Hum Genet. 2023 Oct 5;110(10):1769-1786. doi: 10.1016/j.ajhg.2023.08.012. PMID: 36798224 Free PMC article. Updated. Preprint.
Porphyrias at a glance: diagnosis and treatment.
Cappellini MD, Brancaleoni V, Graziadei G, Tavazzi D, Di Pierro E. Cappellini MD, et al. Among authors: di pierro e. Intern Emerg Med. 2010 Oct;5 Suppl 1:S73-80. doi: 10.1007/s11739-010-0449-7. Intern Emerg Med. 2010. PMID: 20865478 Review.
An unusual diagnosis in a 31-year-old man with abdominal pain and hyponatremia.
Depetri F, Cugno M, Graziadei G, Di Pierro E, Granata F, Peyvandi F, Cappellini MD. Depetri F, et al. Among authors: di pierro e. Intern Emerg Med. 2018 Dec;13(8):1233-1238. doi: 10.1007/s11739-018-1826-x. Epub 2018 Mar 17. Intern Emerg Med. 2018. PMID: 29550908 No abstract available.
Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP).
Granata F, Mendez M, Brancaleoni V, Castelbon FJ, Graziadei G, Ventura P, Di Pierro E. Granata F, et al. Among authors: di pierro e. Mol Genet Metab. 2018 Nov;125(3):295-301. doi: 10.1016/j.ymgme.2018.09.002. Epub 2018 Sep 5. Mol Genet Metab. 2018. PMID: 30201327
120 results