The Pompe Disease Content Hub Channel

Diagnosis, Management, and Research Related to Pompe Disease

59:05 | Anesthesiology, Pain Management, Pompe Disease Content Hub, Rheumatology

Mark Tarnopolsky, MD, PhD, a Professor in the Department of Pediatrics and the Division Head of Neuromuscular and Neurometabolic Disorders, discusses Pompe disease. He discusses signs and symptoms, diagnosis, prognosis, and treatment options for Pompe disease. Dr Tarnopolsky also discusses ongoing research and practical strategies for managing Pompe disease.

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► 13:25

An Overview of Research Program for Pompe Disease

Pompe Disease Content Hub

Priya Kishnani, MD, Chen Family Professor of Pediatrics, Chief of the Division of Medical Genetics, Duke University Medical Center, and Medical Director of the YT and Alice Chen Pediatric Genetic...

► 1:37:47

Small Molecule Inhibitor Reduces Glycogen in Preclinical Mouse Models of Pompe Disease

Pompe Disease Content Hub

Julie Ullman, PhD, of Maze Therapeutics, discusses a new investigational drug, MZE001, that is a small molecule inhibitor of glycogen synthase 1 (GSY1) for the treatment of Pompe disease during...

► 02:10

Multidisciplinary Approach to Managing Pompe Disease

Pompe Disease Content Hub

Priya Kishnani, MD, Chen Family Professor of Pediatrics, Chief of the Division of Medical Genetics, Duke University Medical Center, and Medical Director of the YT and Alice Chen Pediatric Genetic...

► 54:32

Newborn Screening for Pompe Disease

Pompe Disease Content Hub

Damara Ortiz, MD, Director of the Lysosomal Storage Diseases Program at the University of Pittsburgh Medical Center discusses newborn screening for Pompe disease and mucopolysaccharidosis type 1. She presents an...