Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Fiammetta Sorge"'
Autor:
Maria Savino, Matteo Marcacci, Valentina Brancaleoni, Annamaria Nicolli, M. Rossi, Annelisa Macri, Silvia Fustinoni, Fiammetta Sorge, E. Di Pierro, Chiara Cuoghi, V. Fiorentino, P.G. Calzavara-Pinton, R. Sala, Maria Domenica Cappellini, Antonello Pietrangelo, Stefano Marchini, Francesca Granata, Claudio Carmine Guida, Caterina Aurizi, Andrea Trevisan, Paolo Ventura
Publikováno v:
Digestive and Liver Disease. 51:e20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7218abf14df2ab65faeba15079465416
https://doi.org/10.1016/j.dld.2018.11.070
https://doi.org/10.1016/j.dld.2018.11.070
Autor:
Fiammetta Sorge, Xiaoye Schneider-Yin, Annelisa Macri, G. Biolcati, Caterina Aurizi, Elisabeth I. Minder
Publikováno v:
Molecular Genetics and Metabolism. 90:402-407
Mutations and a low-expressed allele IVS3-48c ( in trans to the mutation) of the ferrochelatase (FECH) gene are responsible for erythropoietic protoporphyria (EPP) which is characterized clinically by cutaneous photosensitivity. In this study of 15 I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e021a10b91354368d735ffe2d3ff7c5
https://doi.org/10.1016/j.ymgme.2006.10.012
https://doi.org/10.1016/j.ymgme.2006.10.012
Autor:
Sara Bernabini, Caterina Aurizi, Francesca Clementina Radio, Diana Giannarelli, Fiammetta Sorge, G. Biolcati, Carmelilia De Bernardo, Irene Giotti, Silvia Majore, Francesca Torricelli, Paola Grammatico
Publikováno v:
Blood cells, moleculesdiseases. 55(1)
Hereditary hemochromatosis (HH) is a heterogeneous disorder of iron metabolism. The most common form of the disease is Classic or type 1 HH, mainly caused by a biallelic missense p.Cys282Tyr (c.845G>A) mutation in the HFE gene. However, the penetranc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7838598edefaa78f948e14fffba5161c
https://pubmed.ncbi.nlm.nih.gov/25976471
https://pubmed.ncbi.nlm.nih.gov/25976471
Autor:
Richard Imrich, Shruthi K Bharadwaj, Hana Ayoob, Nicolas Sireau, Birgitta Olsson, G. Biolcati, Tom L. Blundell, Lakshminarayan R. Ranganath, Rangan Srinivasaraghavan, Anthony K Hall, Andrea Zatkova, Oliver Timmis, Kim Hanh Le Quan Sang, Fiammetta Sorge, Ludevit Kadasi, Charles Marques Lourenço, Caterina Aurizi, Mohammed Alsbou, Douglas E. V. Pires, Ronen Spiegel, Jan Radvanszky, Martina Nemethova, Kanakasabapathi Ramadevi, Annalisa Santucci, Robert Aquaron, Lia Milucci, Jozef Rovensky, Alessandro Mannoni, Berardino Porfirio, Silvia Sestini, Federica Genovese, David B. Ascher, James A. Gallagher, Christa van Kan
Publikováno v:
European journal of human genetics : EJHG. 24(1)
Alkaptonuria (AKU) is an autosomal recessive disorder caused by mutations in homogentisate-1,2-dioxygenase (HGD) gene leading to the deficiency of HGD enzyme activity. The DevelopAKUre project is underway to test nitisinone as a specific treatment to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7059e86f4e9c2904f6be81afbf73d6b1
https://pubmed.ncbi.nlm.nih.gov/25804398
https://pubmed.ncbi.nlm.nih.gov/25804398