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LYSOSOMAL STORAGE DISEASES AND THEIR CLINICAL IMPLICATIONS

Academic year and teacher
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Versione italiana
Academic year
2021/2022
Teacher
ADRIANA GALDI
Credits
1
Didactic period
Secondo Semestre
SSD
MED/12

Training objectives

This course has as objective to teach the student possible clinical implications related to lisosomal storage disease in order to arouse interest and attention towards some so-called rare disease, in some cases underestimated.

Prerequisites

Knowledge of Internal Medicine and Biochemestry

Course programme

Introduction of pathophysiological mechanisms to the basis of lisosoomal storage disease. Treated on some of major disease oncluding Gaucher disease, Niemann-Pick disease, Anderson-Fabry disease. Clinical implication in the light of target organs. Hint to the principles of replacement therapy.

Didactic methods

Blended: Seminar and on line Moodle platform

Learning assessment procedures

Oral examination via google meet

Reference texts

Slides provided from teacher and other matherial