PODCAST · health
The Importance of Early Recognition of Tay-Sachs and Sandhoff Disease
by Annenberg Center
Faculty experts, Jeanine Jarnes, PharmD, and Chester Whitley, MD, PhD delve into the rare and difficult to diagnose GM2-gangliosidoses Tays-Sachs and Sandhoff diseases. Following a discussion of the etiology and pathophysiology of these diseases, the faculty use real-life cases to illustrate the various phenotypes of these conditions, as well as key presenting signs and symptoms. Diagnostic approaches are discussed, alongside current standards of care, including supportive and palliative treatment options. Drs. Jarnes and Whitley describe key therapeutic approaches under investigation to impro
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4
Emerging Treatments for TSD and Sd
blood-brain barrier substrate reduction therapy miglustat venglustat
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3
Mild Juvenile and Adult-Onset Variants
juvenile GM2-gangliosidosis late-onset GM2-gangliosidosis differential diagnosis
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2
Classic Presentation
infantile juvenile late-onset phenotype symptoms
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1
Case Discovery
GM2-gangliosides beta-hexosaminidase genetics epidemiology
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ABOUT THIS SHOW
Faculty experts, Jeanine Jarnes, PharmD, and Chester Whitley, MD, PhD delve into the rare and difficult to diagnose GM2-gangliosidoses Tays-Sachs and Sandhoff diseases. Following a discussion of the etiology and pathophysiology of these diseases, the faculty use real-life cases to illustrate the various phenotypes of these conditions, as well as key presenting signs and symptoms. Diagnostic approaches are discussed, alongside current standards of care, including supportive and palliative treatment options. Drs. Jarnes and Whitley describe key therapeutic approaches under investigation to impro
HOSTED BY
Annenberg Center
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