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International Journal of Molecular Sciences|May 20, 2020
Nutrients and Porphyria: An Intriguing CrosstalkElena Di Pierro, Francesca Granata
British Journal of Haematology|March 13, 2016
Advances in understanding the pathogenesis of congenital erythropoietic porphyriaElena Di Pierro, Valentina Brancaleoni, Francesca Granata
International Journal of Molecular Sciences|July 12, 2025
The Relationship Between Non-Transferrin-Bound Iron (NTBI), Labile Plasma Iron (LPI), and Iron ToxicityLorena Duca, Elena Di Pierro, Natalia Scaramellini, et al.
Blood Cells, Molecules & Diseases|September 27, 2016
The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1Valeria Fiorentino, Valentina Brancaleoni, Francesca Granata, et al.
Molecular Genetics and Metabolism|June 27, 2018
Digital PCR (dPCR) analysis reveals that the homozygous c.315-48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP)Valentina Brancaleoni, Francesca Granata, Pasquale Missineo, et al.
Metabolites|October 27, 2022
Associated Effect of <i>SLC40A1</i> and <i>TMPRSS6</i> Polymorphisms on Iron OverloadLorena Duca, Francesca Granata, Elena Di Pierro, et al.
Blood Cells, Molecules & Diseases|July 4, 2012
Seven novel genetic mutations within the 5'UTR and the housekeeping promoter of HMBS gene responsible for the non-erythroid form of acute intermittent porphyriaValentina Brancaleoni, Francesca Granata, Alessandra Colancecco, et al.
Molecular Genetics and Metabolism|September 12, 2018
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)Francesca Granata, Manuel Mendez, Valentina Brancaleoni, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 6, 2019
Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanismMatteo Chiara, Ilaria Primon, Letizia Tarantini, et al.
Frontiers in Immunology|March 5, 2021
Alternative Pathway Involvement in Protoporphyria Patients Related to Sun ExposureFrancesca Granata, Lorena Duca, Valentina Brancaleoni, et al.
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