COURSE DESCRIPTION
Language: English
Duration: 30 minutes
Topic: Metabolic Diseases, MPS
Speaker: Prof. SUZANNE KIRCHER, University of Vienna, Austria
Learning Objectives
A short overview of the group of mucopolysaccharide storage diseases with a special focus on mucopolysaccharidosis type I (MPS I).
-
What are the typical signs of Hurler patients and what can we see in Scheie patients?
-
How can the diagnosis be confirmed and why is it important for pediatricians as well as medical doctors for adults?