Di Pierro E - Search Results

1

Psychological Aspect and Quality of Life in Porphyrias: A Review.

Francesca G, Nicolli A, Colaiocco A, Di Pierro E, Graziadei G. Francesca G, et al. Among authors: di pierro e. Diagnostics (Basel). 2022 May 10;12(5):1193. doi: 10.3390/diagnostics12051193. Diagnostics (Basel). 2022. PMID: 35626348 Free PMC article. Review.

2

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.

3

A challenging diagnosis for potential fatal diseases: recommendations for diagnosing acute porphyrias.

Ventura P, Cappellini MD, Biolcati G, Guida CC, Rocchi E; Gruppo Italiano Porfiria (GrIP). Ventura P, et al. Eur J Intern Med. 2014 Jul;25(6):497-505. doi: 10.1016/j.ejim.2014.03.011. Epub 2014 May 5. Eur J Intern Med. 2014. PMID: 24809927 Review.

4

X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.

Brancaleoni V, Balwani M, Granata F, Graziadei G, Missineo P, Fiorentino V, Fustinoni S, Cappellini MD, Naik H, Desnick RJ, Di Pierro E. Brancaleoni V, et al. Among authors: di pierro e. Clin Genet. 2016 Jan;89(1):20-6. doi: 10.1111/cge.12562. Epub 2015 Feb 17. Clin Genet. 2016. PMID: 25615817 Free PMC article.

5

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. Among authors: di pierro e. 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

6

Transcranial color Doppler in stroke-free adult patients with sickle cell disease.

Graziadei G, Casoni FM, Annoni F, Cortinovis I, Ridolfi P, Gandolfi I, Marcon A, Di Pierro E, Cappellini MD. Graziadei G, et al. Among authors: di pierro e. Ann Hematol. 2017 Sep;96(9):1547-1555. doi: 10.1007/s00277-017-3071-1. Epub 2017 Jul 20. Ann Hematol. 2017. PMID: 28730452

7

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.

8

Digital PCR (dPCR) analysis reveals that the homozygous c.315-48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP).

Brancaleoni V, Granata F, Missineo P, Fustinoni S, Graziadei G, Di Pierro E. Brancaleoni V, et al. Among authors: di pierro e. Mol Genet Metab. 2018 Aug;124(4):287-296. doi: 10.1016/j.ymgme.2018.06.005. Epub 2018 Jun 13. Mol Genet Metab. 2018. PMID: 29941360

9

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

10

Inflammatory involvement into phototoxic reaction in erythropoietic protoporphyria (EPP) patients.

Granata F, Duca L, Graziadei G, Brancaleoni V, Missineo P, De Luca G, Fustinoni S, Di Pierro E. Granata F, et al. Among authors: di pierro e. Immunol Res. 2019 Oct;67(4-5):382-389. doi: 10.1007/s12026-019-09097-5. Immunol Res. 2019. PMID: 31760565 Clinical Trial.

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