A research laboratory is dedicated to the study of enzymatic and genetic alterations in Anderson-Fabry disease, a rare storage disorder caused by mutations in the gene encoding for the α-galactosidase A enzyme, which alter or abolish the enzyme activity. The activities of this Research and Diagnosis Center do not require reservations or a medical prescription.
The study is carried out by sending a blood sample as specified in the forms.
Contacts: Laboratory 091.6809179
For requests and collaborations contact: malattiemetaboliche@irib.cnr.it
Partnership with:
