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). (1) What are the typical signs of Hurler patients and what can we see in Scheie patients? (2) How can the diagnosis be confirmed and why is it important for pediatricians as well as medical doctors for adults?