Mucopolysaccharidoses: A Primer for Pediatricians

RECORDED WEBINAR 

Presenter: Joseph Muenzer, MD, PhD, Professor of Pediatrics and Genetics, Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina. 

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When Common Complaints are the Signs of Lysosomal Storage Diseases – Identifying LSDs

Aimed at frontline pediatric healthcare professionals, attendees will acquire a better understanding of the signs and symptoms of lysosomal storage diseases (LSDs) including the ability to identify the key diagnostic features of LSDs and differentiate them from more common diseases. Pediatricians will learn the appropriate ‘next steps’ to take after a diagnosis and how to maximize treatment for the patient. Learning objectives: (1) Understanding the signs and symptoms of lysosomal storage diseases. (2) Identifying the key diagnostic features of lysosomal storage diseases and differentiate them from more common diseases. (3) Understanding the ‘next steps’ to take after a diagnosis and how to maximize treatment for the patient.

Amel Karaa, Clinical Director, Lysosomal Storage Diseases Program Massachusetts General Hospital & Instructor of Medicine Harvard Medical School


The Pediatrician’s Role in Identifying and Understanding Gaucher Disease

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.

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

 


The Physician's role in identifying and understanding Fabry Disease

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 Fabry disease. (2) Ability to identify the key diagnostic features of Fabry disease. (3) Understanding the complexities of treatment for Fabry disease including differences in treating males and females, when to best begin treatment for individuals, and the overall best treatment practices to ensure a healthy, active lifestyle.

Robert J. Hopkin, MD, Associate Professor of Clinical Pediatrics at Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine



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