The Pediatrician’s Role in Identifying and Understanding Gaucher Disease

Pramod Mistry, MD, PhD, FRCP, Professor of Medicine and Director of the Yale Lysosomal Disease Center and Gaucher Disease Treatment.


Discussing the unique challenges in identifying Fabry disease and what key signs and symptoms of which pediatricians should be aware. Learning Objectives: (1) A better understanding of the signs and symptoms of Gaucher disease. (2) Ability to identify the key diagnostic features of Gaucher disease. (3) Understanding the ‘next steps’ to take after a diagnosis of a Gaucher disease to maximize treatment for the patient.

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