Center for Research and Diagnosis of Mucopolysaccharidosis type I (MPS I)

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Center for Research and Diagnosis of Mucopolysaccharidosis type I (MPS I)
A research laboratory is dedicated to the study of enzymatic and genetic alterations in Mucopolysaccharidosis type I (MPS I), a rare storage disorder caused by mutations in the gene encoding for the alpha-L-iduronidase 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

In Partnership with:SANOFI GENZYME