Italy (Milan)

עיר
Milan
שם המרכז
Rare Diseases Center
כתובת
Fondazione IRCCS Ca’ Granda
Ospedale Maggiore Policlinico
Via F. Sforza 35
20122 Milano
Email
centro.anemieconremovegenite@policlinico.mi.it
אתר
https://www.policlinico.mi.it
טלפון
+390255033493
פקס
+390255033665
Director
Prof.ssa of Internal Medicine Maria Domenica Cappellini
Email
maria.capperemovellini@unimi.it
טלפון
+390255033358
תקציר פעילויות מרכז הפורפיריה
This centre has been endorsed by Ipnet as a Porphyria Expert Clinical Centre (PECC).
The center is recognized at national level for the diagnosis and care of patients affected by all forms of porphyria.
It offers an outpatient service for first visits and follow up and, a day hospital service for administration of treatments. The clinical activity is supported for blood tests by the central analysis laboratory with a toxicology section specialized in the biochemical diagnosis of porphyria.
The genetic analysis is instead performed in the laboratory for the diagnosis and care of rare diseases directly related to the center. This laboratory also carries out research activity on the variability of the clinical expression of the disease taking into consideration the phenotype-genotype relationship and the co-inheritance with modifier genes.
The center actively participates in clinical trials for the development of new therapies.
פרטי התקשרות לשאלות קליניות
Giovanna Graziadei, MD Specialist in Internal Medicine and Hematology
Email
giovanna.graziadei@policlremoveinico.mi.it
טלפון
+390255033297
פרטי התקשרות למעבדה
Elena Di Pierro, PhD in Molecular Medicine
Email
elena.diremovepierro@unimi.it
טלפון
+390255036155