Nutrients and Porphyria: An Intriguing Crosstalk

por Di Pierro, Elena, Granata, Francesca
Publicado 2020

Mechanisms of Neuronal Damage in Acute Hepatic Porphyrias

por Ricci, Andrea, Di Pierro, Elena, Marcacci, Matteo, Ventura, Paolo
Publicado 2021

Psychological Aspect and Quality of Life in Porphyrias: A Review

por Granata, Francesca, Nicolli, Annamaria, Colaiocco, Alessia, Di Pierro, Elena, Graziadei, Giovanna
Publicado 2022

Associated Effect of SLC40A1 and TMPRSS6 Polymorphisms on Iron Overload

por Duca, Lorena, Granata, Francesca, Di Pierro, Elena, Brancaleoni, Valentina, Graziadei, Giovanna, Nava, Isabella
Publicado 2022

Mitochondrial DNA Copy Number Drives the Penetrance of Acute Intermittent Porphyria

por Di Pierro, Elena, Perrone, Miriana, Franco, Milena, Granata, Francesca, Duca, Lorena, Lattuada, Debora, De Luca, Giacomo, Graziadei, Giovanna
Publicado 2023

Alternative Pathway Involvement in Protoporphyria Patients Related to Sun Exposure

por Granata, Francesca, Duca, Lorena, Brancaleoni, Valentina, Fustinoni, Silvia, De Luca, Giacomo, Motta, Irene, Graziadei, Giovanna, Di Pierro, Elena
Publicado 2021

α-Lipoic Acid Improves Hepatic Metabolic Dysfunctions in Acute Intermittent Porphyria: A Proof-of-Concept Study

por Longo, Miriam, Paolini, Erika, Meroni, Marica, Duca, Lorena, Motta, Irene, Fracanzani, Anna Ludovica, Di Pierro, Elena, Dongiovanni, Paola
Publicado 2021

Microcytosis in Erythropoietic Protoporphyria

por Graziadei, Giovanna, Duca, Lorena, Granata, Francesca, De Luca, Giacomo, De Giovanni, Anna, Brancaleoni, Valentina, Nava, Isabella, Di Pierro, Elena
Publicado 2022

Endothelial Dysfunction in Acute Hepatic Porphyrias

por Ricci, Andrea, Sandri, Gilda, Marcacci, Matteo, Di Pierro, Elena, Granata, Francesca, Cuoghi, Chiara, Marchini, Stefano, Pietrangelo, Antonello, Ventura, Paolo
Publicado 2022

Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients

por Granata, Francesca, Brancaleoni, Valentina, Barman-Aksözen, Jasmin, Scopetti, Margherita, De Luca, Giacomo, Fustinoni, Silvia, Motta, Irene, Di Pierro, Elena, Graziadei, Giovanna
Publicado 2022

Laboratory Diagnosis of Porphyria

por Di Pierro, Elena, De Canio, Michele, Mercadante, Rosa, Savino, Maria, Granata, Francesca, Tavazzi, Dario, Nicolli, Anna Maria, Trevisan, Andrea, Marchini, Stefano, Fustinoni, Silvia
Publicado 2021

Recognized and Emerging Features of Erythropoietic and X-Linked Protoporphyria

por Di Pierro, Elena, Granata, Francesca, De Canio, Michele, Rossi, Mariateresa, Ricci, Andrea, Marcacci, Matteo, De Luca, Giacomo, Sarno, Luisa, Barbieri, Luca, Ventura, Paolo, Graziadei, Giovanna
Publicado 2022

Ultraviolet A phototest positivity is associated with higher free erythrocyte protoporphyrin IX concentration and lower transferrin saturation values in erythropoietic protoporphyr...

por Genovese, Giovanni, Maronese, Carlo Alberto, Moltrasio, Chiara, Piccinno, Roberta, Marletta, Dario Antonio, De Luca, Giacomo, Graziadei, Giovanna, Granata, Francesca, Di Pierro, Elena, Cappellini, Maria Domenica, Marzano, Angelo Valerio
Publicado 2021

Host Porphobilinogen Deaminase Deficiency Confers Malaria Resistance in Plasmodium chabaudi but Not in Plasmodium berghei or Plasmodium falciparum During Intraerythrocytic Growth

por Schnider, Cilly Bernardette, Yang, Hao, Starrs, Lora, Ehmann, Anna, Rahimi, Farid, Di Pierro, Elena, Graziadei, Giovanna, Matthews, Kathryn, De Koning-Ward, Tania, Bauer, Denis C., Foote, Simon J., Burgio, Gaetan, McMorran, Brendan J.
Publicado 2020

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

por van Loggerenberg, Warren, Sowlati-Hashjin, Shahin, Weile, Jochen, Hamilton, Rayna, Chawla, Aditya, Sheykhkarimli, Dayag, Gebbia, Marinella, Kishore, Nishka, Frésard, Laure, Mustajoki, Sami, Pischik, Elena, Di Pierro, Elena, Barbaro, Michela, Floderus, Ylva, Schmitt, Caroline, Gouya, Laurent, Colavin, Alexandre, Nussbaum, Robert, Friesema, Edith C.H., Kauppinen, Raili, To-Figueras, Jordi, Aarsand, Aasne K., Desnick, Robert J., Garton, Michael, Roth, Frederick P.
Publicado 2023

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

por van Loggerenberg, Warren, Sowlati-Hashjin, Shahin, Weile, Jochen, Hamilton, Rayna, Chawla, Aditya, Gebbia, Marinella, Kishore, Nishka, Frésard, Laure, Mustajoki, Sami, Pischik, Elena, Di Pierro, Elena, Barbaro, Michela, Floderus, Ylva, Schmitt, Caroline, Gouya, Laurent, Colavin, Alexandre, Nussbaum, Robert, Friesema, Edith C. H., Kauppinen, Raili, To-Figueras, Jordi, Aarsand, Aasne K, Desnick, Robert J., Garton, Michael, Roth, Frederick P.
Publicado 2023