『The Importance of Early Recognition of Tay-Sachs and Sandhoff Disease』のカバーアート

The Importance of Early Recognition of Tay-Sachs and Sandhoff Disease

The Importance of Early Recognition of Tay-Sachs and Sandhoff Disease

著者： Annenberg Center
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概要

 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 improAnnenberg Center 衛生・健康的な生活 身体的病い・疾患
エピソード
  • Emerging Treatments for TSD and Sd

    Emerging Treatments for TSD and Sd
    2023/07/24
    • blood-brain barrier
    • substrate reduction therapy
    • miglustat
    • venglustat


    続きを読む 一部表示
    20 分
  • Mild Juvenile and Adult-Onset Variants

    Mild Juvenile and Adult-Onset Variants
    2023/07/24
    • juvenile GM2-gangliosidosis
    • late-onset GM2-gangliosidosis
    • differential diagnosis
    続きを読む 一部表示
    10 分
  • Classic Presentation

    Classic Presentation
    2023/07/24
    • infantile
    • juvenile
    • late-onset
    • phenotype
    • symptoms
    続きを読む 一部表示
    17 分
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